SHANK2 (SH3 and multiple ankyrin repeat domains 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: SHANK2 (SH3 and multiple ankyrin repeat domains 2) Homo sapiens
Analyze
Symbol: SHANK2
Name: SH3 and multiple ankyrin repeat domains 2
RGD ID: 736232
HGNC Page HGNC:14295
Description: Predicted to enable ionotropic glutamate receptor binding activity and synaptic receptor adaptor activity. Involved in several processes, including negative regulation of hippo signaling; social behavior; and vocalization behavior. Predicted to be located in several cellular components, including cell projection membrane; neurofilament; and postsynaptic membrane. Predicted to be active in several cellular components, including glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density. Implicated in autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AUTS17; cortactin SH3 domain-binding protein; cortactin-binding protein 1; CORTBP1; CTTNBP1; GKAP/SAPAP interacting protein; proline rich synapse associated protein 1; proline-rich synapse associated protein 1; proline-rich synapse-associated protein 1; ProSAP1; SH3 and multiple ankyrin repeat domains protein 2; SHANK; SPANK-3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381170,467,854 - 71,253,228 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1170,467,854 - 71,252,577 (-)EnsemblGRCh38hg38GRCh38
GRCh371170,313,959 - 70,963,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361169,991,609 - 70,185,520 (-)NCBINCBI36Build 36hg18NCBI36
Build 341170,012,765 - 70,185,520NCBI
Celera1167,575,145 - 68,227,408 (-)NCBICelera
Cytogenetic Map11q13.3-q13.4NCBI
HuRef1166,575,130 - 67,004,438 (-)NCBIHuRef
HuRef1167,062,872 - 67,229,732 (-)NCBIHuRef
CHM1_11170,197,402 - 70,819,749 (-)NCBICHM1_1
T2T-CHM13v2.01170,488,279 - 71,179,617 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-colchicine  (EXP)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Butylparaben  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (ISO)
cocaine  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
elemental selenium  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenvalerate  (EXP)
fipronil  (ISO)
fumonisin B1  (EXP)
gabapentin  (EXP)
GW 4064  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
imipramine  (EXP)
lead(0)  (EXP)
linuron  (ISO)
lithium chloride  (EXP)
melphalan  (EXP)
menadione  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-D-aspartic acid  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
nitroglycerin  (ISO)
NMN zwitterion  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
potassium atom  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
propanal  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sulfadiazine  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc dichloride  (ISO)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Hyperactivity and Hypermotivation Associated With Increased Striatal mGluR1 Signaling in a Shank2 Rat Model of Autism. Modi ME, etal., Front Mol Neurosci. 2018 Jun 19;11:107. doi: 10.3389/fnmol.2018.00107. eCollection 2018.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9742101   PMID:10373412   PMID:10433268   PMID:10433269   PMID:10470851   PMID:10506216   PMID:10527873   PMID:10737800   PMID:10806096   PMID:10844022  
PMID:10958799   PMID:10964907   PMID:11087996   PMID:11583995   PMID:12477932   PMID:12504591   PMID:12626503   PMID:14702039   PMID:15489334   PMID:16293618   PMID:16554811   PMID:17081983  
PMID:17474147   PMID:20080968   PMID:20473310   PMID:20531469   PMID:21873635   PMID:21994763   PMID:22346768   PMID:22699619   PMID:22699620   PMID:23149075   PMID:23251661   PMID:23432519  
PMID:23468870   PMID:23602568   PMID:23897824   PMID:24124131   PMID:24751538   PMID:24811177   PMID:25188300   PMID:25468996   PMID:25560758   PMID:26673895   PMID:27001614   PMID:27641545  
PMID:28065597   PMID:28211979   PMID:28611215   PMID:28794017   PMID:29117863   PMID:29509190   PMID:29665782   PMID:29934968   PMID:30911184   PMID:31527615   PMID:32296183   PMID:32564287  
PMID:32616021   PMID:32661924   PMID:32796005   PMID:32897530   PMID:32987185   PMID:33483523   PMID:33961781   PMID:34835087   PMID:34941261   PMID:35337019   PMID:35456494   PMID:35575683  
PMID:35748872   PMID:36231770   PMID:36450866   PMID:37071682   PMID:37574039   PMID:37953224   PMID:38704506  


Genomics

Comparative Map Data
SHANK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381170,467,854 - 71,253,228 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1170,467,854 - 71,252,577 (-)EnsemblGRCh38hg38GRCh38
GRCh371170,313,959 - 70,963,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361169,991,609 - 70,185,520 (-)NCBINCBI36Build 36hg18NCBI36
Build 341170,012,765 - 70,185,520NCBI
Celera1167,575,145 - 68,227,408 (-)NCBICelera
Cytogenetic Map11q13.3-q13.4NCBI
HuRef1166,575,130 - 67,004,438 (-)NCBIHuRef
HuRef1167,062,872 - 67,229,732 (-)NCBIHuRef
CHM1_11170,197,402 - 70,819,749 (-)NCBICHM1_1
T2T-CHM13v2.01170,488,279 - 71,179,617 (-)NCBIT2T-CHM13v2.0
Shank2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397143,531,819 - 143,979,780 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7143,555,665 - 143,978,231 (+)EnsemblGRCm39 Ensembl
GRCm387143,978,077 - 144,426,043 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7144,001,928 - 144,424,494 (+)EnsemblGRCm38mm10GRCm38
MGSCv377151,361,425 - 151,608,580 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367143,840,654 - 144,232,065 (+)NCBIMGSCv36mm8
Celera7143,939,514 - 144,185,177 (+)NCBICelera
Cytogenetic Map7F5NCBI
cM Map788.45NCBI
Shank2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81208,575,144 - 209,020,300 (+)NCBIGRCr8
mRatBN7.21199,146,210 - 199,590,962 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1199,169,429 - 199,589,394 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1207,554,601 - 207,972,754 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01214,636,692 - 215,056,974 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01207,310,858 - 207,731,152 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01217,149,156 - 217,593,950 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1217,151,166 - 217,592,763 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01224,028,791 - 224,450,737 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01222,118,530 - 222,150,341 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41204,399,856 - 204,855,474 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11204,553,308 - 205,005,561 (+)NCBI
Celera1196,732,183 - 197,149,084 (+)NCBICelera
Cytogenetic Map1q42NCBI
Shank2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542215,295,772 - 15,814,711 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542215,295,800 - 15,818,067 (+)NCBIChiLan1.0ChiLan1.0
SHANK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2971,441,934 - 72,138,948 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11172,486,126 - 73,180,580 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01165,570,677 - 66,268,139 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11168,857,186 - 69,495,237 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1168,860,606 - 69,437,925 (-)Ensemblpanpan1.1panPan2
SHANK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11847,477,625 - 47,915,557 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1847,635,788 - 47,912,117 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1846,010,915 - 46,522,454 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01848,113,005 - 48,589,823 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1848,098,110 - 48,589,819 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11847,525,882 - 48,036,670 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01847,111,601 - 47,622,440 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01847,858,659 - 48,368,562 (+)NCBIUU_Cfam_GSD_1.0
Shank2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049473,637,810 - 4,021,398 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936599217,138 - 463,771 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936599196,512 - 463,749 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHANK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl22,864,331 - 3,015,314 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.122,517,853 - 3,016,959 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22924,313 - 1,073,976 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SHANK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.113,453,268 - 4,104,515 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038100,644,177 - 101,362,369 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shank2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476716,380,751 - 16,823,577 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476716,296,053 - 16,828,714 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SHANK2
344 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_042866.2:g.496951_616776del deletion Autism, susceptibility to, 17 [RCV000006889] Chr11:11q13.3-q13.4 risk factor
NG_042866.2:g.(460061_462693)_(532018_533659)del deletion Autism, susceptibility to, 17 [RCV000006890] Chr11:11q13.3-q13.4 risk factor
SHANK2, ARG462TER single nucleotide variant Autism 17 [RCV000006891] Chr11:11q13.3-q13.4 risk factor
NM_012309.5(SHANK2):c.454G>T (p.Glu152Ter) single nucleotide variant not provided [RCV000523113] Chr11:71113322 [GRCh38]
Chr11:70824368 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 copy number gain See cases [RCV000051910] Chr11:71164008..72309374 [GRCh38]
Chr11:71088949..72020418 [GRCh37]
Chr11:70552702..71698066 [NCBI36]
Chr11:11q13.4		 uncertain significance
NM_012309.4(SHANK2):c.4473C>T (p.Ile1491=) single nucleotide variant Malignant melanoma [RCV000069661] Chr11:70485820 [GRCh38]
Chr11:70331925 [GRCh37]
Chr11:70009573 [NCBI36]
Chr11:11q13.3		 not provided
NM_012309.4(SHANK2):c.4365A>G (p.Gln1455=) single nucleotide variant Malignant melanoma [RCV000069662] Chr11:70485928 [GRCh38]
Chr11:70332033 [GRCh37]
Chr11:70009681 [NCBI36]
Chr11:11q13.3		 not provided
NM_012309.4(SHANK2):c.4358C>T (p.Ser1453Phe) single nucleotide variant Malignant melanoma [RCV000069663] Chr11:70485935 [GRCh38]
Chr11:70332040 [GRCh37]
Chr11:70009688 [NCBI36]
Chr11:11q13.3		 not provided
NM_012309.4(SHANK2):c.3356C>T (p.Pro1119Leu) single nucleotide variant Malignant melanoma [RCV000069664] Chr11:70486937 [GRCh38]
Chr11:70333042 [GRCh37]
Chr11:70010690 [NCBI36]
Chr11:11q13.3		 not provided
NM_012309.4(SHANK2):c.772G>A (p.Asp258Asn) single nucleotide variant Malignant melanoma [RCV000069667] Chr11:71092562 [GRCh38]
Chr11:70803608 [GRCh37]
Chr11:70481256 [NCBI36]
Chr11:11q13.4		 not provided
NM_012309.4(SHANK2):c.741G>A (p.Leu247=) single nucleotide variant Malignant melanoma [RCV000069668] Chr11:71094540 [GRCh38]
Chr11:70805586 [GRCh37]
Chr11:70483234 [NCBI36]
Chr11:11q13.4		 not provided
NM_012309.4(SHANK2):c.3456G>A (p.Glu1152=) single nucleotide variant Malignant melanoma [RCV000062342] Chr11:70486837 [GRCh38]
Chr11:70332942 [GRCh37]
Chr11:70010590 [NCBI36]
Chr11:11q13.3		 not provided
NM_012309.5(SHANK2):c.2792A>C (p.Lys931Thr) single nucleotide variant not specified [RCV000118340] Chr11:70487501 [GRCh38]
Chr11:70333606 [GRCh37]
Chr11:11q13.3		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.5494C>T (p.Arg1832Ter) single nucleotide variant not provided [RCV000118343] Chr11:70472925 [GRCh38]
Chr11:70319030 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.4(SHANK2):c.2062-76877G>A single nucleotide variant Lung cancer [RCV000110242] Chr11:70579808 [GRCh38]
Chr11:70425913 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2900A>G (p.Tyr967Cys) single nucleotide variant not provided [RCV004704867]|not specified [RCV000118341] Chr11:70487393 [GRCh38]
Chr11:70333498 [GRCh37]
Chr11:11q13.3		 benign|likely benign
NM_012309.5(SHANK2):c.4461C>T (p.Ala1487=) single nucleotide variant not provided [RCV004717980]|not specified [RCV000118342] Chr11:70485832 [GRCh38]
Chr11:70331937 [GRCh37]
Chr11:11q13.3		 benign|likely benign
NM_012309.4(SHANK2):c.1174+12800C>T single nucleotide variant Lung cancer [RCV000110243] Chr11:70883701 [GRCh38]
Chr11:70729806 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.4(SHANK2):c.592+1396G>T single nucleotide variant Lung cancer [RCV000110244] Chr11:71108545 [GRCh38]
Chr11:70819591 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.4(SHANK2):c.108G>A (p.Thr36=) single nucleotide variant Lung cancer [RCV000110245] Chr11:71147219 [GRCh38]
Chr11:70858265 [GRCh37]
Chr11:11q13.4		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q13.4(chr11:71107757-71192711)x1 copy number loss See cases [RCV000137390] Chr11:71107757..71192711 [GRCh38]
Chr11:70496451..70581405 [NCBI36]
Chr11:11q13.4		 uncertain significance
GRCh38/hg38 11q13.4(chr11:70575193-70893208)x1 copy number loss See cases [RCV000141941] Chr11:70575193..70893208 [GRCh38]
Chr11:70421298..70739313 [GRCh37]
Chr11:70098946..70416961 [NCBI36]
Chr11:11q13.4		 uncertain significance
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 copy number loss See cases [RCV000142138] Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4		 likely pathogenic
NM_012309.5(SHANK2):c.3960C>T (p.Asp1320=) single nucleotide variant not provided [RCV004692798]|not specified [RCV000192423] Chr11:70486333 [GRCh38]
Chr11:70332438 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4195G>A (p.Val1399Met) single nucleotide variant Inborn genetic diseases [RCV002517133]|not specified [RCV000192489] Chr11:70486098 [GRCh38]
Chr11:70332203 [GRCh37]
Chr11:11q13.3		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met) single nucleotide variant not provided [RCV000914920]|not specified [RCV000192938] Chr11:70473398 [GRCh38]
Chr11:70319503 [GRCh37]
Chr11:11q13.3		 benign|likely benign|uncertain significance
NM_012309.5(SHANK2):c.5475C>T (p.Leu1825=) single nucleotide variant not specified [RCV000193037] Chr11:70472944 [GRCh38]
Chr11:70319049 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3299C>T (p.Pro1100Leu) single nucleotide variant not specified [RCV000193349] Chr11:70486994 [GRCh38]
Chr11:70333099 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4130C>T (p.Ala1377Val) single nucleotide variant not specified [RCV000193454] Chr11:70486163 [GRCh38]
Chr11:70332268 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4926G>A (p.Pro1642=) single nucleotide variant not provided [RCV000912670]|not specified [RCV000193525] Chr11:70485367 [GRCh38]
Chr11:70331472 [GRCh37]
Chr11:11q13.3		 benign|uncertain significance
NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile) single nucleotide variant not provided [RCV000963946]|not specified [RCV000193590] Chr11:70473268 [GRCh38]
Chr11:70319373 [GRCh37]
Chr11:11q13.3		 benign|likely benign
NM_012309.5(SHANK2):c.2268G>A (p.Leu756=) single nucleotide variant not specified [RCV000194034] Chr11:70502216 [GRCh38]
Chr11:70348321 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3888G>A (p.Lys1296=) single nucleotide variant not specified [RCV000194395] Chr11:70486405 [GRCh38]
Chr11:70332510 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4183C>T (p.Pro1395Ser) single nucleotide variant not specified [RCV000194456] Chr11:70486110 [GRCh38]
Chr11:70332215 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr) single nucleotide variant Autism, susceptibility to, 17 [RCV000609387]|not provided [RCV000969797]|not specified [RCV000194565] Chr11:70473428 [GRCh38]
Chr11:70319533 [GRCh37]
Chr11:11q13.3		 benign|likely benign|uncertain significance
NM_012309.5(SHANK2):c.2122G>A (p.Gly708Arg) single nucleotide variant not specified [RCV000194640] Chr11:70502871 [GRCh38]
Chr11:70348976 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His) single nucleotide variant Autism [RCV000590889]|not provided [RCV000891837]|not specified [RCV000195065] Chr11:70490374 [GRCh38]
Chr11:70336479 [GRCh37]
Chr11:11q13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012309.5(SHANK2):c.1896dup (p.Asp633fs) duplication Autism, susceptibility to, 17 [RCV000209931] Chr11:70661635..70661636 [GRCh38]
Chr11:70507740..70507741 [GRCh37]
Chr11:11q13.4		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225649] Chr11:70520567..70966737 [NCBI36]
Chr11:11q13.3-13.4		 uncertain significance
NM_012309.5(SHANK2):c.520C>T (p.Arg174Cys) single nucleotide variant Autism spectrum disorder [RCV000270355]|SHANK2-related disorder [RCV004544520]|not provided [RCV004705229] Chr11:71110013 [GRCh38]
Chr11:70821059 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_012309.5(SHANK2):c.7C>T (p.Arg3Cys) single nucleotide variant Autism spectrum disorder [RCV000271211]|Inborn genetic diseases [RCV002520760] Chr11:71147320 [GRCh38]
Chr11:70858366 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.613G>T (p.Ala205Ser) single nucleotide variant Autism spectrum disorder [RCV000273870]|SHANK2-related disorder [RCV004544519] Chr11:71094668 [GRCh38]
Chr11:70805714 [GRCh37]
Chr11:11q13.4		 benign|uncertain significance
NM_012309.5(SHANK2):c.744+8C>T single nucleotide variant Autism spectrum disorder [RCV000276949]|Autism, susceptibility to, 17 [RCV003227571] Chr11:71094529 [GRCh38]
Chr11:70805575 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.336C>T (p.Asp112=) single nucleotide variant Autism spectrum disorder [RCV000281072]|not provided [RCV004703604] Chr11:71118904 [GRCh38]
Chr11:70829950 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.397G>T (p.Val133Phe) single nucleotide variant Autism spectrum disorder [RCV000284589] Chr11:71118843 [GRCh38]
Chr11:70829889 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.912+1134C>T single nucleotide variant Autism spectrum disorder [RCV000287120] Chr11:71091288 [GRCh38]
Chr11:70802334 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4228C>T (p.Pro1410Ser) single nucleotide variant Autism spectrum disorder [RCV000290569] Chr11:70486065 [GRCh38]
Chr11:70332170 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.*4102C>G single nucleotide variant Autism spectrum disorder [RCV000292280]|not provided [RCV004703599] Chr11:70468767 [GRCh38]
Chr11:70314872 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.912+4231G>A single nucleotide variant Autism spectrum disorder [RCV000294009] Chr11:71088191 [GRCh38]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.771A>G (p.Pro257=) single nucleotide variant Autism spectrum disorder [RCV000298133]|SHANK2-related disorder [RCV004537724]|not provided [RCV003884455] Chr11:71092563 [GRCh38]
Chr11:70803609 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.912+269C>T single nucleotide variant Autism spectrum disorder [RCV000301711] Chr11:71092153 [GRCh38]
Chr11:70803199 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.*3067A>G single nucleotide variant Autism spectrum disorder [RCV000303745] Chr11:70469802 [GRCh38]
Chr11:70315907 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.*3475C>G single nucleotide variant Autism spectrum disorder [RCV000307402] Chr11:70469394 [GRCh38]
Chr11:70315499 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.-36A>G single nucleotide variant Autism spectrum disorder [RCV000307493]|not provided [RCV004703605] Chr11:71224720 [GRCh38]
Chr11:70935766 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser) single nucleotide variant Autism spectrum disorder [RCV000311122]|Inborn genetic diseases [RCV002520759] Chr11:71147191 [GRCh38]
Chr11:71147191..71147192 [GRCh38]
Chr11:70858237 [GRCh37]
Chr11:70858237..70858238 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.207+15C>T single nucleotide variant Autism spectrum disorder [RCV000315214]|not provided [RCV004693057] Chr11:71147105 [GRCh38]
Chr11:70858151 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.*1545T>G single nucleotide variant Autism spectrum disorder [RCV000318791] Chr11:70471324 [GRCh38]
Chr11:70317429 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.483+14G>A single nucleotide variant Autism spectrum disorder [RCV000325384]|not provided [RCV004703601] Chr11:71113279 [GRCh38]
Chr11:70824325 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.912+3911C>G single nucleotide variant Autism spectrum disorder [RCV000330186] Chr11:71088511 [GRCh38]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu) single nucleotide variant Autism spectrum disorder [RCV000328964]|not provided [RCV003401302] Chr11:71109952 [GRCh38]
Chr11:70820998 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012309.5(SHANK2):c.722C>T (p.Ala241Val) single nucleotide variant Autism spectrum disorder [RCV000332403] Chr11:71094559 [GRCh38]
Chr11:70805605 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.*591C>A single nucleotide variant Autism spectrum disorder [RCV000334143] Chr11:70472278 [GRCh38]
Chr11:70318383 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.332G>A (p.Arg111His) single nucleotide variant Autism spectrum disorder [RCV000336199]|Inborn genetic diseases [RCV002520758] Chr11:71118908 [GRCh38]
Chr11:70829954 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.396C>A (p.Gly132=) single nucleotide variant Autism spectrum disorder [RCV000339646] Chr11:71118844 [GRCh38]
Chr11:70829890 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1636C>G (p.Pro546Ala) single nucleotide variant Autism spectrum disorder [RCV000341563] Chr11:70807029 [GRCh38]
Chr11:70653134 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.912+3227G>A single nucleotide variant Autism spectrum disorder [RCV000345494] Chr11:71089195 [GRCh38]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.*4029A>C single nucleotide variant Autism spectrum disorder [RCV000347197] Chr11:70468840 [GRCh38]
Chr11:70314945 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.191A>G (p.His64Arg) single nucleotide variant Autism spectrum disorder [RCV000351411] Chr11:71147136 [GRCh38]
Chr11:70858182 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.745-15A>G single nucleotide variant Autism spectrum disorder [RCV000352908] Chr11:71092604 [GRCh38]
Chr11:70803650 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.*1533dup duplication Autism spectrum disorder [RCV000354962]|not provided [RCV003401301] Chr11:70471335..70471336 [GRCh38]
Chr11:70317440..70317441 [GRCh37]
Chr11:11q13.3		 benign|uncertain significance
NM_012309.5(SHANK2):c.900C>T (p.His300=) single nucleotide variant Autism spectrum disorder [RCV000356515]|SHANK2-related disorder [RCV004544518] Chr11:71092434 [GRCh38]
Chr11:70803480 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.*2583T>C single nucleotide variant Autism spectrum disorder [RCV000358642]|not provided [RCV004703600] Chr11:70470286 [GRCh38]
Chr11:70316391 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.*3246G>A single nucleotide variant Autism spectrum disorder [RCV000362166] Chr11:70469623 [GRCh38]
Chr11:70315728 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.51C>T (p.Ser17=) single nucleotide variant Autism spectrum disorder [RCV000365781]|not provided [RCV003401304] Chr11:71147276 [GRCh38]
Chr11:70858322 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn) single nucleotide variant Autism spectrum disorder [RCV000368364]|Inborn genetic diseases [RCV002522203]|not provided [RCV003409474] Chr11:71094656 [GRCh38]
Chr11:70805702 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012309.5(SHANK2):c.385G>A (p.Val129Met) single nucleotide variant Autism spectrum disorder [RCV000375469]|not provided [RCV004703603] Chr11:71118855 [GRCh38]
Chr11:70829901 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.483+13C>T single nucleotide variant Autism spectrum disorder [RCV000379977]|not provided [RCV004703602] Chr11:71113280 [GRCh38]
Chr11:70824326 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.576C>T (p.His192=) single nucleotide variant Autism spectrum disorder [RCV000383266] Chr11:71109957 [GRCh38]
Chr11:70821003 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4676G>A (p.Ser1559Asn) single nucleotide variant Autism spectrum disorder [RCV000384777] Chr11:70485617 [GRCh38]
Chr11:70331722 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.*585C>T single nucleotide variant Autism spectrum disorder [RCV000388297] Chr11:70472284 [GRCh38]
Chr11:70318389 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.*3245T>C single nucleotide variant Autism spectrum disorder [RCV000391963]|not provided [RCV004693056] Chr11:70469624 [GRCh38]
Chr11:70315729 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3172C>T (p.Gln1058Ter) single nucleotide variant Autism spectrum disorder [RCV000394164] Chr11:70487121 [GRCh38]
Chr11:70333226 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.820G>A (p.Val274Ile) single nucleotide variant Autism spectrum disorder [RCV000392237]|See cases [RCV002252092] Chr11:71092514 [GRCh38]
Chr11:70803560 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.168G>A (p.Thr56=) single nucleotide variant Autism spectrum disorder [RCV000400062]|not provided [RCV003401303] Chr11:71147159 [GRCh38]
Chr11:70858205 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012309.5(SHANK2):c.*4377A>T single nucleotide variant Autism spectrum disorder [RCV000398303]|not provided [RCV004705228] Chr11:70468492 [GRCh38]
Chr11:70314597 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.256C>A (p.Arg86=) single nucleotide variant Autism spectrum disorder [RCV000400910] Chr11:71118984 [GRCh38]
Chr11:70830030 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1510G>A (p.Gly504Ser) single nucleotide variant Autism spectrum disorder [RCV000401809] Chr11:70807155 [GRCh38]
Chr11:70653260 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.*3947C>G single nucleotide variant Autism spectrum disorder [RCV000400155] Chr11:70468922 [GRCh38]
Chr11:70315027 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.*1022T>C single nucleotide variant Autism spectrum disorder [RCV000260285] Chr11:70471847 [GRCh38]
Chr11:70317952 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.*1597T>G single nucleotide variant Autism spectrum disorder [RCV000263889] Chr11:70471272 [GRCh38]
Chr11:70317377 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.1793G>A (p.Arg598His) single nucleotide variant Autism spectrum disorder [RCV001374607] Chr11:70698748 [GRCh38]
Chr11:70544853 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_012309.5(SHANK2):c.1706G>A (p.Arg569His) single nucleotide variant Autism [RCV000590881]|not provided [RCV003409713] Chr11:70798514 [GRCh38]
Chr11:70644619 [GRCh37]
Chr11:11q13.4		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012309.5(SHANK2):c.1197G>A (p.Ala399=) single nucleotide variant Autism [RCV000590913]|not provided [RCV000713270] Chr11:70820660 [GRCh38]
Chr11:70666765 [GRCh37]
Chr11:11q13.4		 benign|uncertain significance
NM_012309.5(SHANK2):c.680G>A (p.Arg227His) single nucleotide variant not provided [RCV000521544] Chr11:71094601 [GRCh38]
Chr11:70805647 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1716C>T (p.Ile572=) single nucleotide variant Autism [RCV000590963] Chr11:70798504 [GRCh38]
Chr11:70644609 [GRCh37]
Chr11:11q13.4		 association|uncertain significance
NM_012309.5(SHANK2):c.131C>T (p.Pro44Leu) single nucleotide variant Intellectual disability [RCV000449618] Chr11:71147196 [GRCh38]
Chr11:70858242 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.451G>T (p.Asp151Tyr) single nucleotide variant Autism, susceptibility to, 17 [RCV000427775] Chr11:71113325 [GRCh38]
Chr11:70824371 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4986G>A (p.Pro1662=) single nucleotide variant not specified [RCV000424550] Chr11:70473433 [GRCh38]
Chr11:70319538 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3231C>A (p.Pro1077=) single nucleotide variant not specified [RCV000443412] Chr11:70487062 [GRCh38]
Chr11:70333167 [GRCh37]
Chr11:11q13.3		 likely benign
GRCh37/hg19 11q13.3-13.4(chr11:70091717-70723080)x3 copy number gain See cases [RCV000448513] Chr11:70091717..70723080 [GRCh37]
Chr11:11q13.3-13.4		 uncertain significance
NM_012309.5(SHANK2):c.349dup (p.Asp117fs) duplication not provided [RCV000478171] Chr11:71118890..71118891 [GRCh38]
Chr11:70829936..70829937 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile) single nucleotide variant Autism, susceptibility to, 17 [RCV000625415]|not provided [RCV001529330]|not specified [RCV000503249] Chr11:70485471 [GRCh38]
Chr11:70331576 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2534G>A (p.Arg845Gln) single nucleotide variant not specified [RCV000501026] Chr11:70490293 [GRCh38]
Chr11:70336398 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2292G>A (p.Ser764=) single nucleotide variant not provided [RCV003403174]|not specified [RCV000501154] Chr11:70500586 [GRCh38]
Chr11:70346691 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.2505G>A (p.Pro835=) single nucleotide variant not specified [RCV000501427] Chr11:70490322 [GRCh38]
Chr11:70336427 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4272C>T (p.Pro1424=) single nucleotide variant not provided [RCV000913966]|not specified [RCV000501213] Chr11:70486021 [GRCh38]
Chr11:70332126 [GRCh37]
Chr11:11q13.3		 benign|likely benign
NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup) duplication SHANK2-related disorder [RCV004535622]|not provided [RCV003403176]|not specified [RCV000503708] Chr11:70486126..70486127 [GRCh38]
Chr11:70332231..70332232 [GRCh37]
Chr11:11q13.3		 benign|likely benign
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1 copy number loss See cases [RCV000510219] Chr11:67799160..70701268 [GRCh37]
Chr11:11q13.2-13.4		 likely pathogenic
NM_012309.5(SHANK2):c.4296G>A (p.Pro1432=) single nucleotide variant not specified [RCV000501639] Chr11:70485997 [GRCh38]
Chr11:70332102 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4757C>T (p.Pro1586Leu) single nucleotide variant not provided [RCV003403175]|not specified [RCV000499507] Chr11:70485536 [GRCh38]
Chr11:70331641 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4287T>C (p.Ala1429=) single nucleotide variant not provided [RCV001726203]|not specified [RCV000504271] Chr11:70486006 [GRCh38]
Chr11:70332111 [GRCh37]
Chr11:11q13.3		 benign|likely benign
NM_012309.5(SHANK2):c.2667T>G (p.Pro889=) single nucleotide variant not specified [RCV000504089] Chr11:70487626 [GRCh38]
Chr11:70333731 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) single nucleotide variant Autism, susceptibility to, 17 [RCV000763766]|not provided [RCV000881420]|not specified [RCV000499709] Chr11:70492436 [GRCh38]
Chr11:70338541 [GRCh37]
Chr11:11q13.3		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.3120C>T (p.Ser1040=) single nucleotide variant not provided [RCV003884583]|not specified [RCV000502018] Chr11:70487173 [GRCh38]
Chr11:70333278 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2714C>T (p.Thr905Ile) single nucleotide variant not specified [RCV000499966] Chr11:70487579 [GRCh38]
Chr11:70333684 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2466C>T (p.Ala822=) single nucleotide variant not specified [RCV000502778] Chr11:70490361 [GRCh38]
Chr11:70336466 [GRCh37]
Chr11:11q13.3		 likely benign
GRCh37/hg19 11q13.3-13.4(chr11:70379263-70927800)x1 copy number loss See cases [RCV000511348] Chr11:70379263..70927800 [GRCh37]
Chr11:11q13.3-13.4		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q13.4(chr11:70440222-70605728)x1 copy number loss See cases [RCV000511231] Chr11:70440222..70605728 [GRCh37]
Chr11:11q13.4		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_012309.5(SHANK2):c.1289C>T (p.Ala430Val) single nucleotide variant Autism [RCV000590954]|not provided [RCV004691820] Chr11:70820568 [GRCh38]
Chr11:70666673 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1759C>T (p.Pro587Ser) single nucleotide variant Autism [RCV000590925] Chr11:70798461 [GRCh38]
Chr11:70644566 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.412-9C>T single nucleotide variant SHANK2-related disorder [RCV004544738]|not specified [RCV000608850] Chr11:71113373 [GRCh38]
Chr11:70824419 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.277C>T (p.Gln93Ter) single nucleotide variant Inborn genetic diseases [RCV000622565]|not provided [RCV003488732] Chr11:71118963 [GRCh38]
Chr11:70830009 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic|uncertain significance
NM_012309.5(SHANK2):c.4746CCCGCC[1] (p.Pro1585_Pro1586del) microsatellite not provided [RCV000658616] Chr11:70485536..70485541 [GRCh38]
Chr11:70331641..70331646 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3704A>G (p.Lys1235Arg) single nucleotide variant Autism, susceptibility to, 17 [RCV000678277] Chr11:70486589 [GRCh38]
Chr11:70332694 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2333C>G (p.Ala778Gly) single nucleotide variant Autism, susceptibility to, 17 [RCV000678354] Chr11:70492441 [GRCh38]
Chr11:70338546 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q13.3(chr11:70072759-70353476)x3 copy number gain not provided [RCV000683325] Chr11:70072759..70353476 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q13.4(chr11:70569854-70873024)x1 copy number loss not provided [RCV000683328] Chr11:70569854..70873024 [GRCh37]
Chr11:11q13.4		 likely pathogenic
GRCh37/hg19 11q13.3-13.4(chr11:70390788-70807254)x1 copy number loss not provided [RCV000683334] Chr11:70390788..70807254 [GRCh37]
Chr11:11q13.3-13.4		 likely pathogenic
NM_012309.5(SHANK2):c.4592_4593del (p.Thr1531fs) microsatellite Schizophrenia [RCV000709912] Chr11:70485700..70485701 [GRCh38]
Chr11:70331805..70331806 [GRCh37]
Chr11:11q13.3		 not provided
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer) deletion Autism spectrum disorder [RCV000754680] Chr11:70485988..70485989 [GRCh38]
Chr11:70332093..70332094 [GRCh37]
Chr11:11q13.3		 pathogenic
GRCh37/hg19 11q13.3-13.4(chr11:70374786-70458848)x3 copy number gain not provided [RCV000750107] Chr11:70374786..70458848 [GRCh37]
Chr11:11q13.3-13.4		 benign
GRCh37/hg19 11q13.4(chr11:70557856-70819038)x1 copy number loss not provided [RCV000750108] Chr11:70557856..70819038 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.84C>T (p.Ser28=) single nucleotide variant SHANK2-related disorder [RCV004536160]|not provided [RCV001532177] Chr11:71147243 [GRCh38]
Chr11:70858289 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4231T>C (p.Leu1411=) single nucleotide variant not provided [RCV000894517] Chr11:70486062 [GRCh38]
Chr11:70332167 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) single nucleotide variant Autism spectrum disorder [RCV001374606]|Autism, susceptibility to, 17 [RCV001028010]|not provided [RCV000760886] Chr11:70485387 [GRCh38]
Chr11:70331492 [GRCh37]
Chr11:11q13.3		 likely pathogenic|uncertain significance
NM_012309.5(SHANK2):c.3454dup (p.Glu1152fs) duplication Autism, susceptibility to, 17 [RCV000760241] Chr11:70486838..70486839 [GRCh38]
Chr11:70332943..70332944 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.993dup (p.Asn332fs) duplication Autism, susceptibility to, 17 [RCV003315147] Chr11:71075194..71075195 [GRCh38]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.416G>A (p.Arg139Gln) single nucleotide variant not provided [RCV001090417] Chr11:71113360 [GRCh38]
Chr11:70824406 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3105C>T (p.Ile1035=) single nucleotide variant not provided [RCV000880858]|not specified [RCV001817067] Chr11:70487188 [GRCh38]
Chr11:70333293 [GRCh37]
Chr11:11q13.3		 benign
NM_012309.5(SHANK2):c.2376G>A (p.Pro792=) single nucleotide variant not provided [RCV000904192] Chr11:70492398 [GRCh38]
Chr11:70338503 [GRCh37]
Chr11:11q13.3		 benign
NM_012309.5(SHANK2):c.3351C>G (p.Pro1117=) single nucleotide variant not provided [RCV000901904] Chr11:70486942 [GRCh38]
Chr11:70333047 [GRCh37]
Chr11:11q13.3		 benign
NM_012309.5(SHANK2):c.1401C>T (p.Tyr467=) single nucleotide variant not provided [RCV000836514] Chr11:70820456 [GRCh38]
Chr11:70666561 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.5025G>A (p.Thr1675=) single nucleotide variant Autism, susceptibility to, 17 [RCV002502627]|not provided [RCV000897291] Chr11:70473394 [GRCh38]
Chr11:70319499 [GRCh37]
Chr11:11q13.3		 benign|likely benign
NM_133266.5(SHANK2):c.1108C>A (p.Arg370Ser) single nucleotide variant Esophageal atresia [RCV000984680] Chr11:70487421 [GRCh38]
Chr11:70333526 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3060G>A (p.Glu1020=) single nucleotide variant not provided [RCV000897624] Chr11:70487233 [GRCh38]
Chr11:70333338 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4482G>A (p.Val1494=) single nucleotide variant not provided [RCV000914885] Chr11:70485811 [GRCh38]
Chr11:70331916 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4125C>T (p.Ile1375=) single nucleotide variant not provided [RCV000837250] Chr11:70486168 [GRCh38]
Chr11:70332273 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3042G>A (p.Val1014=) single nucleotide variant not provided [RCV000841229] Chr11:70487251 [GRCh38]
Chr11:70333356 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2403C>T (p.Pro801=) single nucleotide variant not provided [RCV000827519] Chr11:70492371 [GRCh38]
Chr11:70338476 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3246C>G (p.Ile1082Met) single nucleotide variant not provided [RCV001090416] Chr11:70487047 [GRCh38]
Chr11:70333152 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2421G>C (p.Pro807=) single nucleotide variant not provided [RCV000827291] Chr11:70492353 [GRCh38]
Chr11:70338458 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.1371C>T (p.Pro457=) single nucleotide variant not provided [RCV000836572] Chr11:70820486 [GRCh38]
Chr11:70666591 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.2001C>T (p.Ser667=) single nucleotide variant not provided [RCV000836575] Chr11:70659888 [GRCh38]
Chr11:70505993 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala) single nucleotide variant Autism, susceptibility to, 17 [RCV001335350]|not provided [RCV000915444] Chr11:70485980 [GRCh38]
Chr11:70332085 [GRCh37]
Chr11:11q13.3		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.4979+5G>C single nucleotide variant not provided [RCV001171659] Chr11:70485309 [GRCh38]
Chr11:70331414 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.679C>T (p.Arg227Cys) single nucleotide variant Inborn genetic diseases [RCV002549878]|not provided [RCV000994684] Chr11:71094602 [GRCh38]
Chr11:70805648 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2343del (p.Ser782fs) deletion not provided [RCV001209938] Chr11:70492431 [GRCh38]
Chr11:70338536 [GRCh37]
Chr11:11q13.3		 pathogenic
GRCh37/hg19 11q13.3-13.4(chr11:69849324-70478959)x3 copy number gain not provided [RCV000846557] Chr11:69849324..70478959 [GRCh37]
Chr11:11q13.3-13.4		 uncertain significance
NM_012309.5(SHANK2):c.3871A>C (p.Lys1291Gln) single nucleotide variant not provided [RCV000994682] Chr11:70486422 [GRCh38]
Chr11:70332527 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1596C>T (p.Val532=) single nucleotide variant not provided [RCV000994683] Chr11:70807069 [GRCh38]
Chr11:70653174 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.4178C>T (p.Pro1393Leu) single nucleotide variant not provided [RCV001200376] Chr11:70486115 [GRCh38]
Chr11:70332220 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3382G>C (p.Glu1128Gln) single nucleotide variant Autism spectrum disorder [RCV003127999] Chr11:70486911 [GRCh38]
Chr11:70333016 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.1903G>C (p.Glu635Gln) single nucleotide variant not provided [RCV003126353] Chr11:70661629 [GRCh38]
Chr11:70507734 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.61G>A (p.Val21Met) single nucleotide variant Inborn genetic diseases [RCV003273007] Chr11:71147266 [GRCh38]
Chr11:70858312 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter) single nucleotide variant Autism, susceptibility to, 17 [RCV001533143] Chr11:70487700 [GRCh38]
Chr11:70333805 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_012309.5(SHANK2):c.1407C>T (p.Pro469=) single nucleotide variant not provided [RCV001532175] Chr11:70820450 [GRCh38]
Chr11:70666555 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4793A>G (p.Gln1598Arg) single nucleotide variant not provided [RCV000931779] Chr11:70485500 [GRCh38]
Chr11:70331605 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2877C>T (p.Tyr959=) single nucleotide variant not provided [RCV000931780] Chr11:70487416 [GRCh38]
Chr11:70333521 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2573-4G>A single nucleotide variant not provided [RCV000881563] Chr11:70487724 [GRCh38]
Chr11:70333829 [GRCh37]
Chr11:11q13.3		 benign
NM_012309.5(SHANK2):c.4152G>A (p.Ala1384=) single nucleotide variant not provided [RCV000976057] Chr11:70486141 [GRCh38]
Chr11:70332246 [GRCh37]
Chr11:11q13.3		 benign
NM_012309.5(SHANK2):c.2802C>T (p.Pro934=) single nucleotide variant not provided [RCV000909382]|not specified [RCV001818816] Chr11:70487491 [GRCh38]
Chr11:70333596 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3447G>A (p.Thr1149=) single nucleotide variant not provided [RCV000915258] Chr11:70486846 [GRCh38]
Chr11:70332951 [GRCh37]
Chr11:11q13.3		 benign|likely benign
NM_012309.5(SHANK2):c.3541G>A (p.Gly1181Arg) single nucleotide variant not provided [RCV001200377] Chr11:70486752 [GRCh38]
Chr11:70332857 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1230G>A (p.Thr410=) single nucleotide variant not provided [RCV001532176] Chr11:70820627 [GRCh38]
Chr11:70666732 [GRCh37]
Chr11:11q13.4		 likely benign
GRCh37/hg19 11q13.3(chr11:70337288-70360459)x1 copy number loss not provided [RCV002473457] Chr11:70337288..70360459 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4383C>A (p.Asp1461Glu) single nucleotide variant not provided [RCV000994681] Chr11:70485910 [GRCh38]
Chr11:70332015 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs) indel Autism, susceptibility to, 17 [RCV002470217] Chr11:70485657..70485658 [GRCh38]
Chr11:70331762..70331763 [GRCh37]
Chr11:11q13.3		 pathogenic
GRCh37/hg19 11q13.4(chr11:70781356-71117464)x1 copy number loss not provided [RCV002473908] Chr11:70781356..71117464 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.406del (p.Leu136fs) deletion not provided [RCV001008357] Chr11:71118834 [GRCh38]
Chr11:70829880 [GRCh37]
Chr11:11q13.4		 likely pathogenic
GRCh37/hg19 11q13.4(chr11:70795060-71110340)x3 copy number gain not provided [RCV001006416] Chr11:70795060..71110340 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.844G>A (p.Glu282Lys) single nucleotide variant Autism, susceptibility to, 17 [RCV001591760] Chr11:71092490 [GRCh38]
Chr11:70803536 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4151del (p.Ala1384fs) deletion not provided [RCV001090415] Chr11:70486142 [GRCh38]
Chr11:70332247 [GRCh37]
Chr11:11q13.3		 likely pathogenic
NM_012309.5(SHANK2):c.227C>T (p.Pro76Leu) single nucleotide variant Inborn genetic diseases [RCV002554813]|not provided [RCV001090418] Chr11:71119013 [GRCh38]
Chr11:70830059 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.4740_4757del (p.Ala1581_Pro1586del) deletion not provided [RCV001230224] Chr11:70485536..70485553 [GRCh38]
Chr11:70331641..70331658 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2178C>T (p.Asp726=) single nucleotide variant not provided [RCV001200378] Chr11:70502815 [GRCh38]
Chr11:70348920 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.2726C>T (p.Pro909Leu) single nucleotide variant Inborn genetic diseases [RCV001266740] Chr11:70487567 [GRCh38]
Chr11:70333672 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2533C>T (p.Arg845Ter) single nucleotide variant Autism, susceptibility to, 17 [RCV003493834]|Intellectual disability [RCV001257624]|not provided [RCV004774365] Chr11:70490294 [GRCh38]
Chr11:70336399 [GRCh37]
Chr11:11q13.3		 pathogenic|uncertain significance
NM_012309.5(SHANK2):c.2802dup (p.Ala935fs) duplication not provided [RCV001268303] Chr11:70487490..70487491 [GRCh38]
Chr11:70333595..70333596 [GRCh37]
Chr11:11q13.3		 likely pathogenic
NM_012309.5(SHANK2):c.2439+1G>A single nucleotide variant Autism, susceptibility to, 17 [RCV001532873]|Intellectual disability [RCV001328494] Chr11:70492334 [GRCh38]
Chr11:70338439 [GRCh37]
Chr11:11q13.3		 pathogenic|likely pathogenic
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter) single nucleotide variant Autism, susceptibility to, 17 [RCV001813820]|not provided [RCV001281612] Chr11:70490306 [GRCh38]
Chr11:70336411 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_012309.5(SHANK2):c.180_187del (p.Val61fs) deletion not provided [RCV001281636] Chr11:71147140..71147147 [GRCh38]
Chr11:70858186..70858193 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_012309.5(SHANK2):c.4104C>T (p.Thr1368=) single nucleotide variant not provided [RCV001310977] Chr11:70486189 [GRCh38]
Chr11:70332294 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2668C>G (p.Pro890Ala) single nucleotide variant Autism, susceptibility to, 17 [RCV001291694] Chr11:70487625 [GRCh38]
Chr11:70333730 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2207del (p.Pro736fs) deletion not provided [RCV001542073] Chr11:70502277 [GRCh38]
Chr11:70348382 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_012309.5(SHANK2):c.2429C>G (p.Ser810Ter) single nucleotide variant not provided [RCV001543430] Chr11:70492345 [GRCh38]
Chr11:70338450 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_012309.5(SHANK2):c.2142del (p.Lys715fs) deletion not provided [RCV001387930] Chr11:70502851 [GRCh38]
Chr11:70348956 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_012309.5(SHANK2):c.1927G>A (p.Gly643Arg) single nucleotide variant Autism, susceptibility to, 17 [RCV001528114] Chr11:70661605 [GRCh38]
Chr11:70507710 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_012309.5(SHANK2):c.4280G>A (p.Arg1427Gln) single nucleotide variant not provided [RCV001730286] Chr11:70486013 [GRCh38]
Chr11:70332118 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3243C>G (p.Ala1081=) single nucleotide variant not provided [RCV001726848] Chr11:70487050 [GRCh38]
Chr11:70333155 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1 copy number loss not provided [RCV001834393] Chr11:69214835..70821137 [GRCh37]
Chr11:11q13.3-13.4		 pathogenic
GRCh37/hg19 11q13.4(chr11:70505933-70507872)x1 copy number loss not provided [RCV001726860] Chr11:70505933..70507872 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_012309.5(SHANK2):c.1333C>A (p.Leu445Met) single nucleotide variant not provided [RCV001726849] Chr11:70820524 [GRCh38]
Chr11:70666629 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4985_4986del (p.Pro1662fs) deletion See cases [RCV002252482] Chr11:70473433..70473434 [GRCh38]
Chr11:70319538..70319539 [GRCh37]
Chr11:11q13.3		 likely pathogenic
NM_012309.5(SHANK2):c.2247dup (p.Lys750fs) duplication Autism, susceptibility to, 17 [RCV001775357] Chr11:70502236..70502237 [GRCh38]
Chr11:70348341..70348342 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu) single nucleotide variant Autism, susceptibility to, 17 [RCV001801260] Chr11:70485368 [GRCh38]
Chr11:70331473 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.790G>A (p.Gly264Ser) single nucleotide variant Autism, susceptibility to, 17 [RCV001784140]|Inborn genetic diseases [RCV002541225] Chr11:71092544 [GRCh38]
Chr11:70803590 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2699C>T (p.Pro900Leu) single nucleotide variant not provided [RCV001795687] Chr11:70487594 [GRCh38]
Chr11:70333699 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.5449_5452del (p.Leu1817fs) deletion not specified [RCV001817648] Chr11:70472967..70472970 [GRCh38]
Chr11:70319072..70319075 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4446_4447dup (p.Phe1483fs) duplication not provided [RCV001816107] Chr11:70485845..70485846 [GRCh38]
Chr11:70331950..70331951 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4456G>A (p.Val1486Ile) single nucleotide variant Autism, susceptibility to, 17 [RCV001809270] Chr11:70485837 [GRCh38]
Chr11:70331942 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2424G>A (p.Ala808=) single nucleotide variant not specified [RCV001819209] Chr11:70492350 [GRCh38]
Chr11:70338455 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1916T>A (p.Phe639Tyr) single nucleotide variant not provided [RCV001815725] Chr11:70661616 [GRCh38]
Chr11:70507721 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.5376C>T (p.Ala1792=) single nucleotide variant not specified [RCV001817110] Chr11:70473043 [GRCh38]
Chr11:70319148 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.1854-93G>A single nucleotide variant not specified [RCV001817189] Chr11:70661771 [GRCh38]
Chr11:70507876 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His) single nucleotide variant Autism, susceptibility to, 17 [RCV003150833]|not specified [RCV001817327] Chr11:70487027 [GRCh38]
Chr11:70333132 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.5317A>G (p.Ile1773Val) single nucleotide variant not specified [RCV001817437] Chr11:70473102 [GRCh38]
Chr11:70319207 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2529G>T (p.Thr843=) single nucleotide variant not provided [RCV004720946]|not specified [RCV001817536] Chr11:70490298 [GRCh38]
Chr11:70336403 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4518G>A (p.Thr1506=) single nucleotide variant not specified [RCV001817623] Chr11:70485775 [GRCh38]
Chr11:70331880 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2076T>G (p.Asn692Lys) single nucleotide variant not specified [RCV001822848] Chr11:70502917 [GRCh38]
Chr11:70349022 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1854-19C>T single nucleotide variant Autism, susceptibility to, 17 [RCV001809271] Chr11:70661697 [GRCh38]
Chr11:70507802 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1987C>T (p.Gln663Ter) single nucleotide variant not provided [RCV001817906] Chr11:70659902 [GRCh38]
Chr11:70506007 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_012309.5(SHANK2):c.1174+30434A>C single nucleotide variant Autism, susceptibility to, 17 [RCV001839064] Chr11:70866067 [GRCh38]
Chr11:70712172 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11q13.4(chr11:70887601-70910403)x1 copy number loss not provided [RCV001827724] Chr11:70887601..70910403 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1327C>A (p.Arg443Ser) single nucleotide variant SHANK2-related disorder [RCV001825162] Chr11:70820530 [GRCh38]
Chr11:70666635 [GRCh37]
Chr11:11q13.4		 not provided
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter) single nucleotide variant Autism spectrum disorder [RCV001825309]|Rare disease with autism [RCV002287509]|not provided [RCV004591590] Chr11:70661608 [GRCh38]
Chr11:70507713 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic|not provided
NM_012309.5(SHANK2):c.3508G>A (p.Gly1170Arg) single nucleotide variant not provided [RCV002037555] Chr11:70486785 [GRCh38]
Chr11:70332890 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4430T>G (p.Leu1477Arg) single nucleotide variant not provided [RCV001999265] Chr11:70485863 [GRCh38]
Chr11:70331968 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1646G>A (p.Arg549His) single nucleotide variant not provided [RCV002211196] Chr11:70807019 [GRCh38]
Chr11:70653124 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.729C>A (p.Asn243Lys) single nucleotide variant Autism, susceptibility to, 17 [RCV002227778] Chr11:71094552 [GRCh38]
Chr11:70805598 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4168C>G (p.Arg1390Gly) single nucleotide variant See cases [RCV002252919] Chr11:70486125 [GRCh38]
Chr11:70332230 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.460C>T (p.Gln154Ter) single nucleotide variant Autism, susceptibility to, 17 [RCV002221858]   likely pathogenic
NM_012309.5(SHANK2):c.4994T>C (p.Met1665Thr) single nucleotide variant not provided [RCV003116207] Chr11:70473425 [GRCh38]
Chr11:70319530 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3707G>T (p.Gly1236Val) single nucleotide variant not specified [RCV003123473] Chr11:70486586 [GRCh38]
Chr11:70332691 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.601dup (p.Leu201fs) duplication Neurodevelopmental disorder [RCV002273236] Chr11:71094679..71094680 [GRCh38]
Chr11:70805725..70805726 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_012309.5(SHANK2):c.2308+1G>A single nucleotide variant Autism, susceptibility to, 17 [RCV002272957] Chr11:70500569 [GRCh38]
Chr11:70346674 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4066G>A (p.Glu1356Lys) single nucleotide variant See cases [RCV002252897] Chr11:70486227 [GRCh38]
Chr11:70332332 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.415C>T (p.Arg139Ter) single nucleotide variant not provided [RCV002292839] Chr11:71113361 [GRCh38]
Chr11:70824407 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2296C>T (p.Arg766Trp) single nucleotide variant SHANK2-related Complex neurodevelopmental disorder [RCV002266648] Chr11:70500582 [GRCh38]
Chr11:70346687 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs) indel not provided [RCV002275969] Chr11:70473409..70473411 [GRCh38]
Chr11:70319514..70319516 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4930G>T (p.Glu1644Ter) single nucleotide variant Global developmental delay [RCV002272793] Chr11:70485363 [GRCh38]
Chr11:70331468 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_012309.5(SHANK2):c.1174+959A>T single nucleotide variant not provided [RCV002292838] Chr11:70895542 [GRCh38]
Chr11:70741647 [GRCh37]
Chr11:11q13.4		 benign
NM_012309.5(SHANK2):c.4749_4753del (p.Pro1584fs) deletion Rare disease with autism [RCV002287589] Chr11:70485540..70485544 [GRCh38]
Chr11:70331645..70331649 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_012309.5(SHANK2):c.1742del (p.Glu581fs) deletion Autism, susceptibility to, 17 [RCV002470090] Chr11:70798478 [GRCh38]
Chr11:70644583 [GRCh37]
Chr11:11q13.4		 likely pathogenic
GRCh37/hg19 11q13.3-13.4(chr11:70317964-70795061)x3 copy number gain not provided [RCV002472480] Chr11:70317964..70795061 [GRCh37]
Chr11:11q13.3-13.4		 uncertain significance
NM_012309.5(SHANK2):c.5176_5177del (p.Leu1726fs) deletion Autism, susceptibility to, 17 [RCV002466367]|not provided [RCV004721076] Chr11:70473242..70473243 [GRCh38]
Chr11:70319347..70319348 [GRCh37]
Chr11:11q13.3		 likely pathogenic
GRCh37/hg19 11q13.3(chr11:69559588-70347818)x3 copy number gain not provided [RCV002474882] Chr11:69559588..70347818 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q13.4(chr11:70517505-70807254)x1 copy number loss not provided [RCV002472509] Chr11:70517505..70807254 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_012309.5(SHANK2):c.3851C>G (p.Thr1284Ser) single nucleotide variant Inborn genetic diseases [RCV002816896] Chr11:70486442 [GRCh38]
Chr11:70332547 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.562G>C (p.Asp188His) single nucleotide variant Inborn genetic diseases [RCV002773418] Chr11:71109971 [GRCh38]
Chr11:70821017 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3542G>A (p.Gly1181Glu) single nucleotide variant Inborn genetic diseases [RCV002778694] Chr11:70486751 [GRCh38]
Chr11:70332856 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.479C>T (p.Thr160Met) single nucleotide variant Inborn genetic diseases [RCV003012770] Chr11:71113297 [GRCh38]
Chr11:70824343 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2651C>T (p.Ser884Phe) single nucleotide variant Inborn genetic diseases [RCV002816899]|not provided [RCV003443150] Chr11:70487642 [GRCh38]
Chr11:70333747 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.637G>T (p.Val213Phe) single nucleotide variant Inborn genetic diseases [RCV002973406] Chr11:71094644 [GRCh38]
Chr11:70805690 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.817A>C (p.Ile273Leu) single nucleotide variant Inborn genetic diseases [RCV002729487] Chr11:71092517 [GRCh38]
Chr11:70803563 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2297G>A (p.Arg766Gln) single nucleotide variant Inborn genetic diseases [RCV002732075] Chr11:70500581 [GRCh38]
Chr11:70346686 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.5471dup (p.Asp1824fs) duplication Inborn genetic diseases [RCV002799493] Chr11:70472947..70472948 [GRCh38]
Chr11:70319052..70319053 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4087G>A (p.Ala1363Thr) single nucleotide variant Inborn genetic diseases [RCV002762206] Chr11:70486206 [GRCh38]
Chr11:70332311 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.483+6C>T single nucleotide variant Inborn genetic diseases [RCV002844077] Chr11:71113287 [GRCh38]
Chr11:70824333 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.367C>T (p.Arg123Cys) single nucleotide variant Inborn genetic diseases [RCV002707863] Chr11:71118873 [GRCh38]
Chr11:70829919 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2348G>A (p.Arg783His) single nucleotide variant Inborn genetic diseases [RCV002844238] Chr11:70492426 [GRCh38]
Chr11:70338531 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.164A>G (p.Asn55Ser) single nucleotide variant Inborn genetic diseases [RCV002704678] Chr11:71147163 [GRCh38]
Chr11:70858209 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4172T>G (p.Ile1391Ser) single nucleotide variant Inborn genetic diseases [RCV002887093] Chr11:70486121 [GRCh38]
Chr11:70332226 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.112C>T (p.Arg38Trp) single nucleotide variant Inborn genetic diseases [RCV002692512] Chr11:71147215 [GRCh38]
Chr11:70858261 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3547G>A (p.Glu1183Lys) single nucleotide variant Inborn genetic diseases [RCV002713663] Chr11:70486746 [GRCh38]
Chr11:70332851 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2662C>T (p.Pro888Ser) single nucleotide variant Inborn genetic diseases [RCV002645470] Chr11:70487631 [GRCh38]
Chr11:70333736 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2479A>G (p.Thr827Ala) single nucleotide variant Inborn genetic diseases [RCV002854400] Chr11:70490348 [GRCh38]
Chr11:70336453 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.572T>C (p.Phe191Ser) single nucleotide variant Inborn genetic diseases [RCV002765125] Chr11:71109961 [GRCh38]
Chr11:70821007 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.506A>G (p.Asp169Gly) single nucleotide variant Inborn genetic diseases [RCV002984289]|not provided [RCV003396857] Chr11:71110027 [GRCh38]
Chr11:70821073 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_012309.5(SHANK2):c.1826G>A (p.Gly609Asp) single nucleotide variant Inborn genetic diseases [RCV002697450] Chr11:70698715 [GRCh38]
Chr11:70544820 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4780G>A (p.Ala1594Thr) single nucleotide variant Inborn genetic diseases [RCV002964416] Chr11:70485513 [GRCh38]
Chr11:70331618 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4696G>A (p.Ala1566Thr) single nucleotide variant Inborn genetic diseases [RCV002717560] Chr11:70485597 [GRCh38]
Chr11:70331702 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.218G>C (p.Arg73Pro) single nucleotide variant Inborn genetic diseases [RCV002832224] Chr11:71119022 [GRCh38]
Chr11:70830068 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.233C>G (p.Ala78Gly) single nucleotide variant Inborn genetic diseases [RCV002718799] Chr11:71119007 [GRCh38]
Chr11:70830053 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4337C>T (p.Pro1446Leu) single nucleotide variant Inborn genetic diseases [RCV002702826]|not specified [RCV003230770] Chr11:70485956 [GRCh38]
Chr11:70332061 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.5014C>G (p.Arg1672Gly) single nucleotide variant not provided [RCV003398074] Chr11:70473405 [GRCh38]
Chr11:70319510 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3091A>T (p.Ile1031Phe) single nucleotide variant not provided [RCV003398083] Chr11:70487202 [GRCh38]
Chr11:70333307 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2933G>T (p.Arg978Leu) single nucleotide variant not provided [RCV003398084] Chr11:70487360 [GRCh38]
Chr11:70333465 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2284A>G (p.Lys762Glu) single nucleotide variant not provided [RCV003398085] Chr11:70501926 [GRCh38]
Chr11:70348031 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1647C>T (p.Arg549=) single nucleotide variant not provided [RCV003398090] Chr11:70807018 [GRCh38]
Chr11:70653123 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.745-6T>C single nucleotide variant Inborn genetic diseases [RCV003356980] Chr11:71092595 [GRCh38]
Chr11:70803641 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1745A>C (p.Glu582Ala) single nucleotide variant not specified [RCV003331702] Chr11:70798475 [GRCh38]
Chr11:70644580 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.113G>A (p.Arg38Gln) single nucleotide variant Inborn genetic diseases [RCV003347552] Chr11:71147214 [GRCh38]
Chr11:70858260 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4697C>T (p.Ala1566Val) single nucleotide variant not provided [RCV003456783] Chr11:70485596 [GRCh38]
Chr11:70331701 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.403T>A (p.Ser135Thr) single nucleotide variant Inborn genetic diseases [RCV003384690] Chr11:71118837 [GRCh38]
Chr11:70829883 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3746T>C (p.Ile1249Thr) single nucleotide variant not provided [RCV003443295] Chr11:70486547 [GRCh38]
Chr11:70332652 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_012309.5(SHANK2):c.4131G>A (p.Ala1377=) single nucleotide variant not provided [RCV003398077] Chr11:70486162 [GRCh38]
Chr11:70332267 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2242C>T (p.Arg748Cys) single nucleotide variant not provided [RCV003398086] Chr11:70502242 [GRCh38]
Chr11:70348347 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4547T>A (p.Ile1516Asn) single nucleotide variant not provided [RCV003441555] Chr11:70485746 [GRCh38]
Chr11:70331851 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.5248G>A (p.Gly1750Arg) single nucleotide variant not provided [RCV003442625] Chr11:70473171 [GRCh38]
Chr11:70319276 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.174dup (p.Ile59fs) duplication not provided [RCV003456784] Chr11:71147152..71147153 [GRCh38]
Chr11:70858198..70858199 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4980-3756C>A single nucleotide variant not provided [RCV003398075] Chr11:70477195 [GRCh38]
Chr11:70323300 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3789G>T (p.Thr1263=) single nucleotide variant not provided [RCV003398079] Chr11:70486504 [GRCh38]
Chr11:70332609 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3180G>A (p.Pro1060=) single nucleotide variant not provided [RCV003398081] Chr11:70487113 [GRCh38]
Chr11:70333218 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3154A>G (p.Ser1052Gly) single nucleotide variant not provided [RCV003398082] Chr11:70487139 [GRCh38]
Chr11:70333244 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1477C>G (p.Pro493Ala) single nucleotide variant not provided [RCV003398092] Chr11:70820380 [GRCh38]
Chr11:70666485 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1175-5810G>A single nucleotide variant not provided [RCV003398100] Chr11:70826492 [GRCh38]
Chr11:70672597 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_012309.5(SHANK2):c.498A>T (p.Lys166Asn) single nucleotide variant not provided [RCV003398102] Chr11:71110035 [GRCh38]
Chr11:70821081 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.236C>T (p.Thr79Ile) single nucleotide variant not provided [RCV003443421] Chr11:71119004 [GRCh38]
Chr11:70830050 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1306T>G (p.Cys436Gly) single nucleotide variant not provided [RCV003398096] Chr11:70820551 [GRCh38]
Chr11:70666656 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4346C>T (p.Pro1449Leu) single nucleotide variant not provided [RCV003443313] Chr11:70485947 [GRCh38]
Chr11:70332052 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3025C>T (p.Arg1009Trp) single nucleotide variant not provided [RCV003443325] Chr11:70487268 [GRCh38]
Chr11:70333373 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2590C>T (p.Arg864Trp) single nucleotide variant SHANK2-related disorder [RCV004529719] Chr11:70487703 [GRCh38]
Chr11:70333808 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.5175C>G (p.Pro1725=) single nucleotide variant not provided [RCV003398073] Chr11:70473244 [GRCh38]
Chr11:70319349 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4847T>C (p.Leu1616Pro) single nucleotide variant not provided [RCV003398076] Chr11:70485446 [GRCh38]
Chr11:70331551 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1971G>T (p.Pro657=) single nucleotide variant not provided [RCV003398088] Chr11:70659918 [GRCh38]
Chr11:70506023 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1341C>T (p.Pro447=) single nucleotide variant not provided [RCV003398094] Chr11:70820516 [GRCh38]
Chr11:70666621 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1287C>T (p.Ser429=) single nucleotide variant not provided [RCV003398098] Chr11:70820570 [GRCh38]
Chr11:70666675 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.713C>G (p.Ala238Gly) single nucleotide variant not provided [RCV003398101] Chr11:71094568 [GRCh38]
Chr11:70805614 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.5185G>A (p.Ala1729Thr) single nucleotide variant not provided [RCV003456782] Chr11:70473234 [GRCh38]
Chr11:70319339 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.457_478del (p.Lys153fs) deletion not provided [RCV003443355] Chr11:71113298..71113319 [GRCh38]
Chr11:70824344..70824365 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3570del (p.Ala1191fs) deletion not provided [RCV004590634] Chr11:70486723 [GRCh38]
Chr11:70332828 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3527C>T (p.Thr1176Met) single nucleotide variant SHANK2-related disorder [RCV004536749] Chr11:70486766 [GRCh38]
Chr11:70332871 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.5436C>T (p.Ile1812=) single nucleotide variant not provided [RCV003409330] Chr11:70472983 [GRCh38]
Chr11:70319088 [GRCh37]
Chr11:11q13.3		 benign
NM_012309.5(SHANK2):c.5273C>T (p.Ala1758Val) single nucleotide variant not provided [RCV003409331] Chr11:70473146 [GRCh38]
Chr11:70319251 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.4438C>A (p.Pro1480Thr) single nucleotide variant not provided [RCV003409332] Chr11:70485855 [GRCh38]
Chr11:70331960 [GRCh37]
Chr11:11q13.3		 benign
NM_012309.5(SHANK2):c.4129G>A (p.Ala1377Thr) single nucleotide variant not provided [RCV003409333] Chr11:70486164 [GRCh38]
Chr11:70332269 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1539C>T (p.Phe513=) single nucleotide variant not provided [RCV003409334] Chr11:70807126 [GRCh38]
Chr11:70653231 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4102A>G (p.Thr1368Ala) single nucleotide variant not provided [RCV003398078] Chr11:70486191 [GRCh38]
Chr11:70332296 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1406C>A (p.Pro469His) single nucleotide variant not provided [RCV003398093] Chr11:70820451 [GRCh38]
Chr11:70666556 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1323G>T (p.Ser441=) single nucleotide variant not provided [RCV003398095] Chr11:70820534 [GRCh38]
Chr11:70666639 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.8G>A (p.Arg3His) single nucleotide variant not provided [RCV003398104] Chr11:71147319 [GRCh38]
Chr11:70858365 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.3391G>A (p.Asp1131Asn) single nucleotide variant not provided [RCV003398080] Chr11:70486902 [GRCh38]
Chr11:70333007 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.1973C>G (p.Ala658Gly) single nucleotide variant not provided [RCV003398087] Chr11:70659916 [GRCh38]
Chr11:70506021 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1517A>G (p.Asn506Ser) single nucleotide variant not provided [RCV003398091] Chr11:70807148 [GRCh38]
Chr11:70653253 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.432G>A (p.Val144=) single nucleotide variant not provided [RCV003398103] Chr11:71113344 [GRCh38]
Chr11:70824390 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1670G>A (p.Ser557Asn) single nucleotide variant SHANK2-related disorder [RCV004536795]|not provided [RCV003398089] Chr11:70798550 [GRCh38]
Chr11:70644655 [GRCh37]
Chr11:11q13.4		 benign
NM_012309.5(SHANK2):c.1288G>A (p.Ala430Thr) single nucleotide variant not provided [RCV003398097] Chr11:70820569 [GRCh38]
Chr11:70666674 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1282G>A (p.Ala428Thr) single nucleotide variant not provided [RCV003398099] Chr11:70820575 [GRCh38]
Chr11:70666680 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.5225G>T (p.Ser1742Ile) single nucleotide variant SHANK2-related disorder [RCV004538955] Chr11:70473194 [GRCh38]
Chr11:70319299 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1708G>A (p.Gly570Ser) single nucleotide variant SHANK2-related disorder [RCV004538977] Chr11:70798512 [GRCh38]
Chr11:70644617 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2699C>A (p.Pro900Gln) single nucleotide variant not provided [RCV003441495] Chr11:70487594 [GRCh38]
Chr11:70333699 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.8G>T (p.Arg3Leu) single nucleotide variant not provided [RCV003441488] Chr11:71147319 [GRCh38]
Chr11:70858365 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.207+5G>C single nucleotide variant not provided [RCV003441541] Chr11:71147115 [GRCh38]
Chr11:70858161 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3307C>G (p.Leu1103Val) single nucleotide variant not provided [RCV003441683] Chr11:70486986 [GRCh38]
Chr11:70333091 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2090G>C (p.Gly697Ala) single nucleotide variant not provided [RCV003441547] Chr11:70502903 [GRCh38]
Chr11:70349008 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.162del (p.Asn55fs) deletion Autism, susceptibility to, 17 [RCV003883265] Chr11:71147165 [GRCh38]
Chr11:70858211 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.472C>T (p.Leu158Phe) single nucleotide variant not provided [RCV003491477] Chr11:71113304 [GRCh38]
Chr11:70824350 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4604del (p.Asp1535fs) deletion Autism, susceptibility to, 17 [RCV003507991] Chr11:70485689 [GRCh38]
Chr11:70331794 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_012309.5(SHANK2):c.892G>T (p.Gly298Cys) single nucleotide variant not provided [RCV003491476] Chr11:71092442 [GRCh38]
Chr11:70803488 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1393G>A (p.Gly465Arg) single nucleotide variant not specified [RCV003995132] Chr11:70820464 [GRCh38]
Chr11:70666569 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2531T>C (p.Met844Thr) single nucleotide variant Autism, susceptibility to, 17 [RCV003615815] Chr11:70490296 [GRCh38]
Chr11:70336401 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q13.4(chr11:70403217-70698405)x1 copy number loss not specified [RCV003986927] Chr11:70403217..70698405 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_012309.5(SHANK2):c.411+5A>G single nucleotide variant SHANK2-related disorder [RCV004542482] Chr11:71118824 [GRCh38]
Chr11:70829870 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4323G>A (p.Lys1441=) single nucleotide variant SHANK2-related disorder [RCV004539421] Chr11:70485970 [GRCh38]
Chr11:70332075 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.1963C>T (p.Pro655Ser) single nucleotide variant not provided [RCV003887041] Chr11:70659926 [GRCh38]
Chr11:70506031 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(70785658_70803467)_(70858385_70935742)dup duplication not specified [RCV003988410] Chr11:70803467..70858385 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.891C>T (p.Asn297=) single nucleotide variant SHANK2-related disorder [RCV004531958] Chr11:71092443 [GRCh38]
Chr11:70803489 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.593-7T>C single nucleotide variant SHANK2-related disorder [RCV004540900] Chr11:71094695 [GRCh38]
Chr11:70805741 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1778-18909T>C single nucleotide variant not provided [RCV004546355] Chr11:70717672 [GRCh38]
Chr11:70563777 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.5079G>A (p.Arg1693=) single nucleotide variant SHANK2-related disorder [RCV004532235] Chr11:70473340 [GRCh38]
Chr11:70319445 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.2198-1G>A single nucleotide variant Autism, susceptibility to, 17 [RCV004334150] Chr11:70502287 [GRCh38]
Chr11:70348392 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_012309.5(SHANK2):c.2310dup (p.Lys771Ter) duplication Autism, susceptibility to, 17 [RCV004334151] Chr11:70492463..70492464 [GRCh38]
Chr11:70338568..70338569 [GRCh37]
Chr11:11q13.3		 likely pathogenic
NM_012309.5(SHANK2):c.885T>C (p.Asp295=) single nucleotide variant SHANK2-related disorder [RCV004534464] Chr11:71092449 [GRCh38]
Chr11:70803495 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.5274G>A (p.Ala1758=) single nucleotide variant not provided [RCV003886274] Chr11:70473145 [GRCh38]
Chr11:70319250 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.318G>A (p.Pro106=) single nucleotide variant SHANK2-related disorder [RCV004543929] Chr11:71118922 [GRCh38]
Chr11:70829968 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.660T>C (p.Gly220=) single nucleotide variant SHANK2-related disorder [RCV004540801] Chr11:71094621 [GRCh38]
Chr11:70805667 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.2548A>C (p.Ile850Leu) single nucleotide variant SHANK2-related disorder [RCV004544119] Chr11:70490279 [GRCh38]
Chr11:70336384 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.3918C>T (p.Ser1306=) single nucleotide variant SHANK2-related disorder [RCV004532204] Chr11:70486375 [GRCh38]
Chr11:70332480 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.582G>A (p.Pro194=) single nucleotide variant SHANK2-related disorder [RCV004542330] Chr11:71109951 [GRCh38]
Chr11:70820997 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.5C>T (p.Pro2Leu) single nucleotide variant SHANK2-related disorder [RCV004540921] Chr11:71147322 [GRCh38]
Chr11:70858368 [GRCh37]
Chr11:11q13.4		 benign
NM_012309.5(SHANK2):c.135C>T (p.Gly45=) single nucleotide variant SHANK2-related disorder [RCV004543970] Chr11:71147192 [GRCh38]
Chr11:70858238 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.2143A>C (p.Lys715Gln) single nucleotide variant SHANK2-related disorder [RCV004544126] Chr11:70502850 [GRCh38]
Chr11:70348955 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.2397G>A (p.Gln799=) single nucleotide variant SHANK2-related disorder [RCV004537094] Chr11:70492377 [GRCh38]
Chr11:70338482 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.5241C>T (p.Pro1747=) single nucleotide variant SHANK2-related disorder [RCV004534696] Chr11:70473178 [GRCh38]
Chr11:70319283 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.823G>A (p.Gly275Arg) single nucleotide variant SHANK2-related disorder [RCV004542361] Chr11:71092511 [GRCh38]
Chr11:70803557 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4562C>T (p.Ser1521Phe) single nucleotide variant SHANK2-related disorder [RCV004539489] Chr11:70485731 [GRCh38]
Chr11:70331836 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.132G>A (p.Pro44=) single nucleotide variant SHANK2-related disorder [RCV004532013] Chr11:71147195 [GRCh38]
Chr11:70858241 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.3156C>G (p.Ser1052Arg) single nucleotide variant SHANK2-related disorder [RCV004532089] Chr11:70487137 [GRCh38]
Chr11:70333242 [GRCh37]
Chr11:11q13.3		 benign
NM_012309.5(SHANK2):c.1146C>T (p.Tyr382=) single nucleotide variant SHANK2-related disorder [RCV004539435] Chr11:70896529 [GRCh38]
Chr11:70742634 [GRCh37]
Chr11:11q13.4		 benign
NM_012309.5(SHANK2):c.1415G>A (p.Arg472His) single nucleotide variant not provided [RCV003886212] Chr11:70820442 [GRCh38]
Chr11:70666547 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.4307A>G (p.Asp1436Gly) single nucleotide variant not provided [RCV003884963] Chr11:70485986 [GRCh38]
Chr11:70332091 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.247G>T (p.Ala83Ser) single nucleotide variant SHANK2-related disorder [RCV004542631] Chr11:71118993 [GRCh38]
Chr11:70830039 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.744+2T>G single nucleotide variant not provided [RCV004722092] Chr11:71094535 [GRCh38]
Chr11:70805581 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1450G>A (p.Ala484Thr) single nucleotide variant not provided [RCV003884008] Chr11:70820407 [GRCh38]
Chr11:70666512 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1511G>A (p.Gly504Asp) single nucleotide variant SHANK2-related disorder [RCV004540886] Chr11:70807154 [GRCh38]
Chr11:70653259 [GRCh37]
Chr11:11q13.4		 benign
NM_012309.5(SHANK2):c.612C>T (p.Ala204=) single nucleotide variant SHANK2-related disorder [RCV004540780] Chr11:71094669 [GRCh38]
Chr11:70805715 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1854-59G>A single nucleotide variant not provided [RCV003885982] Chr11:70661737 [GRCh38]
Chr11:70507842 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4243C>A (p.Leu1415Met) single nucleotide variant SHANK2-related disorder [RCV004544149] Chr11:70486050 [GRCh38]
Chr11:70332155 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.1825G>A (p.Gly609Ser) single nucleotide variant Inborn genetic diseases [RCV004450880] Chr11:70698716 [GRCh38]
Chr11:70544821 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1827C>G (p.Gly609=) single nucleotide variant Inborn genetic diseases [RCV004450881] Chr11:70698714 [GRCh38]
Chr11:70544819 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.4786G>T (p.Val1596Phe) single nucleotide variant not provided [RCV004547066] Chr11:70485507 [GRCh38]
Chr11:70331612 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.5278C>T (p.Arg1760Cys) single nucleotide variant not provided [RCV004590819] Chr11:70473141 [GRCh38]
Chr11:70319246 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.269C>T (p.Thr90Ile) single nucleotide variant Inborn genetic diseases [RCV004450883] Chr11:71118971 [GRCh38]
Chr11:70830017 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.576C>A (p.His192Gln) single nucleotide variant Inborn genetic diseases [RCV004450884] Chr11:71109957 [GRCh38]
Chr11:70821003 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2595G>T (p.Gln865His) single nucleotide variant not provided [RCV004572989] Chr11:70487698 [GRCh38]
Chr11:70333803 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2277C>T (p.Leu759=) single nucleotide variant Inborn genetic diseases [RCV004450882] Chr11:70502207 [GRCh38]
Chr11:70348312 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.480G>A (p.Thr160=) single nucleotide variant not provided [RCV004575247] Chr11:71113296 [GRCh38]
Chr11:70824342 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.1492G>A (p.Gly498Arg) single nucleotide variant not provided [RCV004575279] Chr11:70820365 [GRCh38]
Chr11:70666470 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.577G>A (p.Asp193Asn) single nucleotide variant Inborn genetic diseases [RCV004667304] Chr11:71109956 [GRCh38]
Chr11:70821002 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3953_3958delinsGC (p.Thr1318fs) indel Autism, susceptibility to, 17 [RCV004666701] Chr11:70486335..70486340 [GRCh38]
Chr11:70332440..70332445 [GRCh37]
Chr11:11q13.3		 likely pathogenic
NM_012309.5(SHANK2):c.4845T>C (p.Ile1615=) single nucleotide variant Inborn genetic diseases [RCV004667302] Chr11:70485448 [GRCh38]
Chr11:70331553 [GRCh37]
Chr11:11q13.3		 likely benign
NM_012309.5(SHANK2):c.5231C>T (p.Pro1744Leu) single nucleotide variant not provided [RCV004592361] Chr11:70473188 [GRCh38]
Chr11:70319293 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2404_2420del (p.Ser802fs) deletion not provided [RCV004698116] Chr11:70492354..70492370 [GRCh38]
Chr11:70338459..70338475 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_012309.5(SHANK2):c.4462G>A (p.Asp1488Asn) single nucleotide variant not provided [RCV004573140] Chr11:70485831 [GRCh38]
Chr11:70331936 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2175C>T (p.Pro725=) single nucleotide variant not provided [RCV004575218] Chr11:70502818 [GRCh38]
Chr11:70348923 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.2295C>A (p.Val765=) single nucleotide variant Inborn genetic diseases [RCV004676353] Chr11:70500583 [GRCh38]
Chr11:70346688 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.590G>A (p.Gly197Glu) single nucleotide variant not specified [RCV004766652] Chr11:71109943 [GRCh38]
Chr11:70820989 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.1911T>G (p.Phe637Leu) single nucleotide variant not provided [RCV004762868]   uncertain significance
NM_012309.5(SHANK2):c.2002G>A (p.Val668Met) single nucleotide variant not provided [RCV004760203]   uncertain significance
NM_012309.5(SHANK2):c.3572C>A (p.Ala1191Glu) single nucleotide variant not provided [RCV004763870]   uncertain significance
NM_012309.5(SHANK2):c.3801G>T (p.Gln1267His) single nucleotide variant not provided [RCV004729563] Chr11:70486492 [GRCh38]
Chr11:70332597 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4520C>A (p.Thr1507Asn) single nucleotide variant not provided [RCV004727711] Chr11:70485773 [GRCh38]
Chr11:70331878 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.5529G>C (p.Leu1843Phe) single nucleotide variant SHANK2-related disorder [RCV004729934] Chr11:70472890 [GRCh38]
Chr11:70318995 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1681G>C (p.Gly561Arg) single nucleotide variant SHANK2-related disorder [RCV004728029] Chr11:70798539 [GRCh38]
Chr11:70644644 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.744+9G>A single nucleotide variant SHANK2-related disorder [RCV004736924] Chr11:71094528 [GRCh38]
Chr11:70805574 [GRCh37]
Chr11:11q13.4		 likely benign
NM_012309.5(SHANK2):c.2504C>T (p.Pro835Leu) single nucleotide variant not provided [RCV004724146] Chr11:70490323 [GRCh38]
Chr11:70336428 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.714del (p.Ala239fs) deletion not provided [RCV004729368] Chr11:71094567 [GRCh38]
Chr11:70805613 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2672C>T (p.Pro891Leu) single nucleotide variant SHANK2-related disorder [RCV004736843] Chr11:70487621 [GRCh38]
Chr11:70333726 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1784G>A (p.Arg595His) single nucleotide variant SHANK2-related disorder [RCV004737695] Chr11:70698757 [GRCh38]
Chr11:70544862 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.430G>T (p.Val144Leu) single nucleotide variant not provided [RCV004763873]   uncertain significance
NM_012309.5(SHANK2):c.842G>A (p.Cys281Tyr) single nucleotide variant not provided [RCV004760121]   uncertain significance
NM_012309.5(SHANK2):c.4730del (p.Ile1577fs) deletion not provided [RCV004760124]   uncertain significance
NM_012309.5(SHANK2):c.200A>G (p.Gln67Arg) single nucleotide variant not provided [RCV004763971]   uncertain significance
NM_012309.5(SHANK2):c.4898A>T (p.Gln1633Leu) single nucleotide variant not provided [RCV004767958] Chr11:70485395 [GRCh38]
Chr11:70331500 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.3680T>G (p.Met1227Arg) single nucleotide variant not provided [RCV004761006]   uncertain significance
NM_012309.5(SHANK2):c.1933A>G (p.Lys645Glu) single nucleotide variant not provided [RCV004761052]   uncertain significance
NM_012309.5(SHANK2):c.4742C>T (p.Ala1581Val) single nucleotide variant not provided [RCV004761735]   uncertain significance
NM_012309.5(SHANK2):c.3211del (p.Ser1071fs) deletion SHANK2-related disorder [RCV004728484] Chr11:70487082 [GRCh38]
Chr11:70333187 [GRCh37]
Chr11:11q13.3		 likely pathogenic
NM_012309.5(SHANK2):c.4127T>C (p.Val1376Ala) single nucleotide variant SHANK2-related disorder [RCV004728570] Chr11:70486166 [GRCh38]
Chr11:70332271 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV004772266] Chr11:71147325 [GRCh38]
Chr11:70858371 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.3167A>G (p.Asp1056Gly) single nucleotide variant not provided [RCV004729352] Chr11:70487126 [GRCh38]
Chr11:70333231 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.2348G>C (p.Arg783Pro) single nucleotide variant not provided [RCV004768155] Chr11:70492426 [GRCh38]
Chr11:70338531 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.4603G>A (p.Asp1535Asn) single nucleotide variant SHANK2-related disorder [RCV004737086] Chr11:70485690 [GRCh38]
Chr11:70331795 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_012309.5(SHANK2):c.1297T>C (p.Trp433Arg) single nucleotide variant SHANK2-related disorder [RCV004737793] Chr11:70820560 [GRCh38]
Chr11:70666665 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_012309.5(SHANK2):c.2551+5G>A single nucleotide variant not provided [RCV004761682]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12928
Count of miRNA genes:1486
Interacting mature miRNAs:2012
Transcripts:ENST00000294018, ENST00000338508, ENST00000357171, ENST00000409161, ENST00000409530, ENST00000412252, ENST00000413503, ENST00000419988, ENST00000423696, ENST00000424924, ENST00000425049, ENST00000425585, ENST00000426687, ENST00000449116, ENST00000449833, ENST00000457074, ENST00000458632, ENST00000460048, ENST00000468619, ENST00000470759, ENST00000482659, ENST00000498519
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407252487GWAS901463_HCOVID-19, mortality QTL GWAS901463 (human)0.00001COVID-19, mortalityratio of deaths to total study population during a period of time (CMO:0001023)117079873470798735Human
407302597GWAS951573_Hhearing measurement QTL GWAS951573 (human)0.0000002hearing measurementhearing physiological measurement (CMO:0002204)117085536070855361Human
407046917GWAS695893_Hmucocutaneous lymph node syndrome QTL GWAS695893 (human)0.0000006mucocutaneous lymph node syndrome117118011571180116Human
406968774GWAS617750_Heducational attainment QTL GWAS617750 (human)4e-09educational attainment117048739370487394Human
406904071GWAS553047_Hunipolar depression QTL GWAS553047 (human)4e-08unipolar depression117069883270698833Human
407176013GWAS824989_Hbipolar I disorder QTL GWAS824989 (human)5e-11bipolar I disorder117067182270671823Human
407045771GWAS694747_Hrenal transplant outcome measurement QTL GWAS694747 (human)0.000005renal transplant outcome measurement117081941670819417Human
406968776GWAS617752_Heducational attainment QTL GWAS617752 (human)2e-13educational attainment117063747670637477Human
406968778GWAS617754_Heducational attainment QTL GWAS617754 (human)1e-15educational attainment117081595270815953Human
406914318GWAS563294_Hbipolar disorder QTL GWAS563294 (human)1e-10bipolar disorder117067182270671823Human
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
406944848GWAS593824_Hgut microbiome measurement QTL GWAS593824 (human)0.000003gut microbiome measurement117118330871183309Human
407237200GWAS886176_Hskin neoplasm QTL GWAS886176 (human)5e-08skin neoplasm117081360070813601Human
407243024GWAS892000_Heosinophilic esophagitis QTL GWAS892000 (human)1e-09eosinophilic esophagitis117068274570682746Human
407077077GWAS726053_Hlate-onset Alzheimers disease QTL GWAS726053 (human)0.000008late-onset Alzheimers disease117082011670820117Human
407100570GWAS749546_HFEV/FVC ratio, response to bronchodilator QTL GWAS749546 (human)0.000003FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)117048048870480489Human
406995673GWAS644649_Hbody mass index QTL GWAS644649 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)117071718170717182Human
406887260GWAS536236_Hforced expiratory volume, response to bronchodilator QTL GWAS536236 (human)2e-08forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)117048048870480489Human
406913118GWAS562094_Hhip circumference QTL GWAS562094 (human)0.000002hip circumferencehip circumference (CMO:0000014)117112928371129284Human
407160740GWAS809716_HFEV/FVC ratio, response to bronchodilator QTL GWAS809716 (human)0.000002FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)117047431870474319Human
407027302GWAS676278_Hestradiol measurement QTL GWAS676278 (human)0.000001estradiol measurementblood estradiol level (CMO:0000513)117113415871134159Human
407033831GWAS682807_Hgut microbiome measurement QTL GWAS682807 (human)0.000005gut microbiome measurement117067408470674085Human
407236588GWAS885564_Hlipid measurement QTL GWAS885564 (human)0.00001lipid measurementblood lipid measurement (CMO:0000050)117110971371109714Human
406887275GWAS536251_Hforced expiratory volume, response to bronchodilator QTL GWAS536251 (human)0.000002FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)117049950470499505Human
406887276GWAS536252_Hforced expiratory volume, response to bronchodilator QTL GWAS536252 (human)0.000001forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)117047431870474319Human
407260394GWAS909370_Hsarcoidosis QTL GWAS909370 (human)0.000006sarcoidosis117089493170894932Human
406951916GWAS600892_Hprotein measurement QTL GWAS600892 (human)3e-13protein measurement117047028670470287Human
407213096GWAS862072_HHodgkins lymphoma QTL GWAS862072 (human)4e-11Hodgkins lymphoma117114719171147192Human
407027692GWAS676668_Hresponse to fenofibrate QTL GWAS676668 (human)0.000003response to fenofibrate117066010170660102Human
407287415GWAS936391_Hbody height QTL GWAS936391 (human)0.000001body height (VT:0001253)body height (CMO:0000106)117066985870669859Human
407262772GWAS911748_Hacute myeloid leukemia QTL GWAS911748 (human)3e-08acute myeloid leukemia117078113770781138Human
407228470GWAS877446_Hurate measurement QTL GWAS877446 (human)0.000009urate measurementblood uric acid level (CMO:0000501)117057107670571077Human
407033201GWAS682177_Hunipolar depression QTL GWAS682177 (human)6e-08unipolar depression117069883270698833Human
406983089GWAS632065_Hunipolar depression QTL GWAS632065 (human)4e-14unipolar depression117069883270698833Human
407262770GWAS911746_Hacute myeloid leukemia QTL GWAS911746 (human)1e-13acute myeloid leukemia117078113770781138Human
406907959GWAS556935_Hbipolar disorder QTL GWAS556935 (human)8e-09bipolar disorder117067182270671823Human
407265853GWAS914829_Hlifestyle measurement, anxiety disorder measurement QTL GWAS914829 (human)2e-08lifestyle measurement, anxiety disorder measurement117051039970510400Human
406918074GWAS567050_Hsmoking initiation QTL GWAS567050 (human)7e-10smoking initiation117084104470841045Human

Markers in Region
D11S1975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,403,233 - 70,403,343UniSTSGRCh37
Build 361170,080,881 - 70,080,991RGDNCBI36
Celera1167,664,432 - 67,664,534RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,664,384 - 66,664,486UniSTS
Marshfield Genetic Map1171.6UniSTS
Marshfield Genetic Map1171.6RGD
TNG Radiation Hybrid Map1131735.0UniSTS
deCODE Assembly Map1176.76UniSTS
Stanford-G3 RH Map113083.0UniSTS
Whitehead-RH Map11360.9UniSTS
NCBI RH Map11589.5UniSTS
D1S2718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,629,157 - 12,629,348UniSTSGRCh37
GRCh371170,402,372 - 70,402,803UniSTSGRCh37
Build 36112,551,744 - 12,551,935RGDNCBI36
Celera111,740,865 - 11,741,056RGD
Celera1167,663,582 - 67,664,002UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map11q13.2UniSTS
HuRef1166,663,535 - 66,663,954UniSTS
HuRef111,782,079 - 11,782,270UniSTS
Marshfield Genetic Map129.93RGD
Marshfield Genetic Map129.93UniSTS
Genethon Genetic Map132.4UniSTS
TNG Radiation Hybrid Map16065.0UniSTS
Stanford-G3 RH Map1648.0UniSTS
GeneMap99-G3 RH Map1648.0UniSTS
D11S4139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,504,269 - 70,504,461UniSTSGRCh37
Build 361170,181,917 - 70,182,109RGDNCBI36
Celera1167,766,205 - 67,766,357RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,765,442 - 66,765,609UniSTS
Marshfield Genetic Map1172.82RGD
Marshfield Genetic Map1172.82UniSTS
Genethon Genetic Map1176.5UniSTS
TNG Radiation Hybrid Map1131807.0UniSTS
WI-14325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,315,661 - 70,315,792UniSTSGRCh37
Build 361169,993,309 - 69,993,440RGDNCBI36
Celera1167,576,845 - 67,576,976RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,576,830 - 66,576,961UniSTS
GeneMap99-GB4 RH Map11262.55UniSTS
Whitehead-RH Map11364.1UniSTS
G17560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,402,258 - 70,402,458UniSTSGRCh37
Build 361170,079,906 - 70,080,106RGDNCBI36
Celera1167,663,468 - 67,663,668RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,663,421 - 66,663,621UniSTS
RH66696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,719,885 - 70,720,010UniSTSGRCh37
Build 361170,397,533 - 70,397,658RGDNCBI36
Celera1167,981,770 - 67,981,895RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,981,622 - 66,981,747UniSTS
GeneMap99-GB4 RH Map11259.82UniSTS
RH91142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,313,986 - 70,314,110UniSTSGRCh37
Build 361169,991,634 - 69,991,758RGDNCBI36
Celera1167,575,170 - 67,575,294RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,575,155 - 66,575,279UniSTS
GeneMap99-GB4 RH Map11262.55UniSTS
RH76480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,719,881 - 70,720,095UniSTSGRCh37
Build 361170,397,529 - 70,397,743RGDNCBI36
Celera1167,981,766 - 67,981,980RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,981,618 - 66,981,832UniSTS
D11S579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,683,274 - 70,683,380UniSTSGRCh37
Build 361170,360,922 - 70,361,028RGDNCBI36
Celera1167,945,165 - 67,945,271RGD
HuRef1166,945,112 - 66,945,218UniSTS
D11S971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,403,177 - 70,403,344UniSTSGRCh37
Build 361170,080,825 - 70,080,992RGDNCBI36
Celera1167,664,376 - 67,664,535RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,664,328 - 66,664,487UniSTS
SHGC-78908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,559,041 - 70,559,378UniSTSGRCh37
Build 361170,236,689 - 70,237,026RGDNCBI36
Celera1167,820,936 - 67,821,273RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,820,593 - 66,820,930UniSTS
TNG Radiation Hybrid Map1131835.0UniSTS
RH124032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,846,285 - 70,846,506UniSTSGRCh37
Build 361170,523,933 - 70,524,154RGDNCBI36
Celera1168,140,077 - 68,140,298RGD
Cytogenetic Map11q13.2UniSTS
HuRef1167,139,912 - 67,140,133UniSTS
G59906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,522,815 - 70,522,922UniSTSGRCh37
Build 361170,200,463 - 70,200,570RGDNCBI36
Celera1167,784,711 - 67,784,818RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,783,917 - 66,784,024UniSTS
TNG Radiation Hybrid Map1131812.0UniSTS
D11S3627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,918,572 - 70,918,828UniSTSGRCh37
Build 361170,596,220 - 70,596,476RGDNCBI36
Cytogenetic Map11q13.2UniSTS
HuRef1167,212,502 - 67,212,758UniSTS
SHGC-106206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,868,240 - 70,868,567UniSTSGRCh37
Build 361170,545,888 - 70,546,215RGDNCBI36
Celera1168,162,976 - 68,163,303RGD
Cytogenetic Map11q13.2UniSTS
HuRef1167,162,266 - 67,162,593UniSTS
TNG Radiation Hybrid Map1131959.0UniSTS
SHGC-141871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,356,548 - 70,356,828UniSTSGRCh37
Build 361170,034,196 - 70,034,476RGDNCBI36
Celera1167,617,732 - 67,618,012RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,617,720 - 66,618,000UniSTS
TNG Radiation Hybrid Map1131709.0UniSTS
SHGC-146094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,626,658 - 70,626,981UniSTSGRCh37
Build 361170,304,306 - 70,304,629RGDNCBI36
Celera1167,888,573 - 67,888,897RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,888,266 - 66,888,590UniSTS
TNG Radiation Hybrid Map1131864.0UniSTS
RH36629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,845,105 - 70,845,296UniSTSGRCh37
Build 361170,522,753 - 70,522,944RGDNCBI36
Celera1168,138,897 - 68,139,088RGD
Cytogenetic Map11q13.2UniSTS
HuRef1167,138,732 - 67,138,923UniSTS
GeneMap99-GB4 RH Map11259.82UniSTS
NCBI RH Map11589.5UniSTS
RH36039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,317,184 - 70,317,295UniSTSGRCh37
Build 361169,994,832 - 69,994,943RGDNCBI36
Celera1167,578,368 - 67,578,479RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,578,353 - 66,578,464UniSTS
GeneMap99-GB4 RH Map11259.82UniSTS
A008P15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,479,825 - 70,480,006UniSTSGRCh37
Build 361170,157,473 - 70,157,654RGDNCBI36
Celera1167,741,793 - 67,741,974RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,741,059 - 66,741,240UniSTS
GeneMap99-GB4 RH Map11262.04UniSTS
NCBI RH Map11589.5UniSTS
WIAF-2195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,522,797 - 70,522,967UniSTSGRCh37
Build 361170,200,445 - 70,200,615RGDNCBI36
Celera1167,784,693 - 67,784,863RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,783,899 - 66,784,069UniSTS
GeneMap99-GB4 RH Map11259.82UniSTS
NCBI RH Map11589.5UniSTS
STS-T84114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,733,504 - 70,733,731UniSTSGRCh37
Build 361170,411,152 - 70,411,379RGDNCBI36
Celera1167,995,408 - 67,995,635RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,995,262 - 66,995,489UniSTS
GeneMap99-GB4 RH Map11262.04UniSTS
SHGC-154075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,733,318 - 70,733,620UniSTSGRCh37
Build 361170,410,966 - 70,411,268RGDNCBI36
Celera1167,995,223 - 67,995,524RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,995,077 - 66,995,378UniSTS
TNG Radiation Hybrid Map1131901.0UniSTS
UniSTS:24206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,864,418 - 70,864,600UniSTSGRCh37
Build 361170,542,066 - 70,542,248RGDNCBI36
HuRef1167,158,444 - 67,158,626UniSTS
D11S4057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,313,989 - 70,314,107UniSTSGRCh37
Build 361169,991,637 - 69,991,755RGDNCBI36
Celera1167,575,173 - 67,575,291RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,575,158 - 66,575,276UniSTS
GeneMap99-GB4 RH Map11257.4UniSTS
RH48629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,826,835 - 70,827,001UniSTSGRCh37
Build 361170,504,483 - 70,504,649RGDNCBI36
Celera1168,125,400 - 68,125,566RGD
Cytogenetic Map11q13.2UniSTS
HuRef1167,121,695 - 67,121,861UniSTS
GeneMap99-GB4 RH Map11261.24UniSTS
NCBI RH Map11597.0UniSTS
D11S2288E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,478,560 - 70,478,717UniSTSGRCh37
Build 361170,156,208 - 70,156,365RGDNCBI36
Celera1167,740,528 - 67,740,685RGD
Cytogenetic Map11q13.2UniSTS
HuRef1166,739,794 - 66,739,951UniSTS
GeneMap99-GB4 RH Map11262.04UniSTS
NCBI RH Map11589.5UniSTS
D11S1126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371170,766,687 - 70,766,943UniSTSGRCh37
Build 361170,444,335 - 70,444,591RGDNCBI36
Celera1168,028,579 - 68,028,835RGD
Cytogenetic Map11q13.2UniSTS
HuRef1167,028,448 - 67,028,704UniSTS
G48072  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1167,208,485 - 67,208,985UniSTS
D11S579  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2425 2703 2175 4852 1717 2299 4 619 1497 461 2198 6721 5962 34 3682 847 1707 1569 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA464273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB028945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC234421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP004370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV313099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ152234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX122808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX122809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000338508   ⟹   ENSP00000345193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,469,435 - 70,661,818 (-)Ensembl
Ensembl Acc Id: ENST00000357171   ⟹   ENSP00000349694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,472,819 - 70,661,762 (-)Ensembl
Ensembl Acc Id: ENST00000409161   ⟹   ENSP00000386491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,467,856 - 70,662,197 (-)Ensembl
Ensembl Acc Id: ENST00000409530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,489,013 - 70,661,840 (-)Ensembl
Ensembl Acc Id: ENST00000412252   ⟹   ENSP00000414876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,472,819 - 70,661,764 (-)Ensembl
Ensembl Acc Id: ENST00000424924   ⟹   ENSP00000402944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,469,435 - 70,502,859 (-)Ensembl
Ensembl Acc Id: ENST00000425049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,807,049 - 70,873,122 (-)Ensembl
Ensembl Acc Id: ENST00000426687   ⟹   ENSP00000391570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,492,432 - 70,698,769 (-)Ensembl
Ensembl Acc Id: ENST00000445654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,566,387 - 70,659,910 (-)Ensembl
Ensembl Acc Id: ENST00000449116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,490,167 - 70,661,840 (-)Ensembl
Ensembl Acc Id: ENST00000449833   ⟹   ENSP00000399423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,467,856 - 70,661,818 (-)Ensembl
Ensembl Acc Id: ENST00000458632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,952,702 - 71,094,688 (-)Ensembl
Ensembl Acc Id: ENST00000460048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,798,443 - 70,951,071 (-)Ensembl
Ensembl Acc Id: ENST00000468619   ⟹   ENSP00000483920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,667,839 - 70,826,757 (-)Ensembl
Ensembl Acc Id: ENST00000470759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,654,146 - 70,807,074 (-)Ensembl
Ensembl Acc Id: ENST00000482659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,174,693 - 71,240,924 (-)Ensembl
Ensembl Acc Id: ENST00000498519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,698,079 - 70,807,139 (-)Ensembl
Ensembl Acc Id: ENST00000601538   ⟹   ENSP00000469689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,467,854 - 71,252,577 (-)Ensembl
Ensembl Acc Id: ENST00000606715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,469,433 - 70,475,170 (-)Ensembl
Ensembl Acc Id: ENST00000608988   ⟹   ENSP00000476264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,907,635 - 71,252,577 (-)Ensembl
Ensembl Acc Id: ENST00000618363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,896,385 - 71,092,477 (-)Ensembl
Ensembl Acc Id: ENST00000645599   ⟹   ENSP00000493501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,820,364 - 70,896,567 (-)Ensembl
Ensembl Acc Id: ENST00000654939   ⟹   ENSP00000499427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,469,435 - 70,487,720 (-)Ensembl
Ensembl Acc Id: ENST00000656230   ⟹   ENSP00000499561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,469,435 - 70,826,894 (-)Ensembl
Ensembl Acc Id: ENST00000659264   ⟹   ENSP00000499270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,469,435 - 70,718,003 (-)Ensembl
Ensembl Acc Id: ENST00000686462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,644,030 - 70,698,766 (-)Ensembl
Ensembl Acc Id: ENST00000690983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,644,240 - 70,661,957 (-)Ensembl
RefSeq Acc Id: NM_001379226   ⟹   NP_001366155
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 70,826,894 (-)NCBI
T2T-CHM13v2.01170,488,279 - 70,848,142 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012309   ⟹   NP_036441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,577 (-)NCBI
GRCh371170,313,961 - 70,935,808 (-)ENTREZGENE
Build 361169,991,609 - 70,185,520 (-)NCBI Archive
HuRef1166,575,130 - 67,004,438 (-)ENTREZGENE
HuRef1167,062,872 - 67,229,732 (-)NCBI
CHM1_11170,197,402 - 70,819,783 (-)NCBI
T2T-CHM13v2.01170,488,279 - 71,178,966 (-)NCBI
Sequence:
RefSeq Acc Id: NM_133266   ⟹   NP_573573
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 70,661,841 (-)NCBI
GRCh371170,313,961 - 70,935,808 (-)ENTREZGENE
Build 361170,012,766 - 70,185,520 (-)NCBI Archive
HuRef1166,575,130 - 67,004,438 (-)ENTREZGENE
CHM1_11170,197,402 - 70,391,348 (-)NCBI
T2T-CHM13v2.01170,488,279 - 70,682,218 (-)NCBI
Sequence:
RefSeq Acc Id: NR_110766
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 70,661,841 (-)NCBI
CHM1_11170,197,402 - 70,391,348 (-)NCBI
T2T-CHM13v2.01170,488,279 - 70,682,218 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017388   ⟹   XP_016872877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,251,872 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017389   ⟹   XP_016872878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,577 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017390   ⟹   XP_016872879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 70,718,003 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426611   ⟹   XP_047282567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,577 (-)NCBI
RefSeq Acc Id: XM_047426612   ⟹   XP_047282568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,577 (-)NCBI
RefSeq Acc Id: XM_047426613   ⟹   XP_047282569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,577 (-)NCBI
RefSeq Acc Id: XM_047426614   ⟹   XP_047282570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,780 (-)NCBI
RefSeq Acc Id: XM_047426615   ⟹   XP_047282571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,577 (-)NCBI
RefSeq Acc Id: XM_047426616   ⟹   XP_047282572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,253,228 (-)NCBI
RefSeq Acc Id: XM_047426617   ⟹   XP_047282573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,251,872 (-)NCBI
RefSeq Acc Id: XM_047426618   ⟹   XP_047282574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,935 (-)NCBI
RefSeq Acc Id: XM_047426619   ⟹   XP_047282575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,577 (-)NCBI
RefSeq Acc Id: XM_047426620   ⟹   XP_047282576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 71,252,577 (-)NCBI
RefSeq Acc Id: XM_047426621   ⟹   XP_047282577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 70,826,894 (-)NCBI
RefSeq Acc Id: XM_047426622   ⟹   XP_047282578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,467,854 - 70,911,975 (-)NCBI
RefSeq Acc Id: XM_054368105   ⟹   XP_054224080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,177,928 (-)NCBI
RefSeq Acc Id: XM_054368106   ⟹   XP_054224081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,178,966 (-)NCBI
RefSeq Acc Id: XM_054368107   ⟹   XP_054224082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,178,966 (-)NCBI
RefSeq Acc Id: XM_054368108   ⟹   XP_054224083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,178,966 (-)NCBI
RefSeq Acc Id: XM_054368109   ⟹   XP_054224084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,178,966 (-)NCBI
RefSeq Acc Id: XM_054368110   ⟹   XP_054224085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,179,110 (-)NCBI
RefSeq Acc Id: XM_054368111   ⟹   XP_054224086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,178,966 (-)NCBI
RefSeq Acc Id: XM_054368112   ⟹   XP_054224087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,179,617 (-)NCBI
RefSeq Acc Id: XM_054368113   ⟹   XP_054224088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,177,927 (-)NCBI
RefSeq Acc Id: XM_054368114   ⟹   XP_054224089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,179,354 (-)NCBI
RefSeq Acc Id: XM_054368115   ⟹   XP_054224090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,178,966 (-)NCBI
RefSeq Acc Id: XM_054368116   ⟹   XP_054224091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 71,178,966 (-)NCBI
RefSeq Acc Id: XM_054368117   ⟹   XP_054224092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 70,848,142 (-)NCBI
RefSeq Acc Id: XM_054368118   ⟹   XP_054224093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 70,933,227 (-)NCBI
RefSeq Acc Id: XM_054368119   ⟹   XP_054224094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01170,488,279 - 70,749,352 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001366155 (Get FASTA)   NCBI Sequence Viewer  
  NP_036441 (Get FASTA)   NCBI Sequence Viewer  
  NP_573573 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872877 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872878 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872879 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282567 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282568 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282569 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282570 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282571 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282572 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282573 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282574 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282575 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282576 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282577 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282578 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224085 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224094 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF02496 (Get FASTA)   NCBI Sequence Viewer  
  AAH93885 (Get FASTA)   NCBI Sequence Viewer  
  AAI12098 (Get FASTA)   NCBI Sequence Viewer  
  AAI14485 (Get FASTA)   NCBI Sequence Viewer  
  AAI43390 (Get FASTA)   NCBI Sequence Viewer  
  AAZ77790 (Get FASTA)   NCBI Sequence Viewer  
  AFO66269 (Get FASTA)   NCBI Sequence Viewer  
  AFO66270 (Get FASTA)   NCBI Sequence Viewer  
  BAA82974 (Get FASTA)   NCBI Sequence Viewer  
  BAH37016 (Get FASTA)   NCBI Sequence Viewer  
  BAH37017 (Get FASTA)   NCBI Sequence Viewer  
  BAH37018 (Get FASTA)   NCBI Sequence Viewer  
  EAW74771 (Get FASTA)   NCBI Sequence Viewer  
  EAW74772 (Get FASTA)   NCBI Sequence Viewer  
  EAW74773 (Get FASTA)   NCBI Sequence Viewer  
  EAW74774 (Get FASTA)   NCBI Sequence Viewer  
  EAW74775 (Get FASTA)   NCBI Sequence Viewer  
  EAW74776 (Get FASTA)   NCBI Sequence Viewer  
  EAW74777 (Get FASTA)   NCBI Sequence Viewer  
  EAW74778 (Get FASTA)   NCBI Sequence Viewer  
  EAW74779 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345193
  ENSP00000345193.7
  ENSP00000386491.1
  ENSP00000391570.1
  ENSP00000414876.2
  ENSP00000469689
  ENSP00000469689.2
  ENSP00000493501.1
  ENSP00000499270
  ENSP00000499270.1
  ENSP00000499427.1
  ENSP00000499561
  ENSP00000499561.1
GenBank Protein Q9UPX8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_036441   ⟸   NM_012309
- Peptide Label: isoform 1
- UniProtKB: Q52LK2 (UniProtKB/Swiss-Prot),   Q3Y8G9 (UniProtKB/Swiss-Prot),   C0SPG9 (UniProtKB/Swiss-Prot),   C0SPG8 (UniProtKB/Swiss-Prot),   Q9UKP1 (UniProtKB/Swiss-Prot),   Q9UPX8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_573573   ⟸   NM_133266
- Peptide Label: isoform 2
- UniProtKB: A6NHU9 (UniProtKB/TrEMBL),   C0SPH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872878   ⟸   XM_017017389
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016872877   ⟸   XM_017017388
- Peptide Label: isoform X1
- UniProtKB: Q52LK2 (UniProtKB/Swiss-Prot),   Q3Y8G9 (UniProtKB/Swiss-Prot),   C0SPG9 (UniProtKB/Swiss-Prot),   C0SPG8 (UniProtKB/Swiss-Prot),   Q9UKP1 (UniProtKB/Swiss-Prot),   Q9UPX8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872879   ⟸   XM_017017390
- Peptide Label: isoform X7
- UniProtKB: A0A590UJ45 (UniProtKB/TrEMBL),   A6NHU9 (UniProtKB/TrEMBL),   C0SPH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001366155   ⟸   NM_001379226
- Peptide Label: isoform 3
- UniProtKB: A6NHU9 (UniProtKB/TrEMBL),   C0SPH0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000402944   ⟸   ENST00000424924
Ensembl Acc Id: ENSP00000414876   ⟸   ENST00000412252
Ensembl Acc Id: ENSP00000391570   ⟸   ENST00000426687
Ensembl Acc Id: ENSP00000483920   ⟸   ENST00000468619
Ensembl Acc Id: ENSP00000345193   ⟸   ENST00000338508
Ensembl Acc Id: ENSP00000469689   ⟸   ENST00000601538
Ensembl Acc Id: ENSP00000499427   ⟸   ENST00000654939
Ensembl Acc Id: ENSP00000499561   ⟸   ENST00000656230
Ensembl Acc Id: ENSP00000499270   ⟸   ENST00000659264
Ensembl Acc Id: ENSP00000386491   ⟸   ENST00000409161
Ensembl Acc Id: ENSP00000493501   ⟸   ENST00000645599
Ensembl Acc Id: ENSP00000399423   ⟸   ENST00000449833
Ensembl Acc Id: ENSP00000349694   ⟸   ENST00000357171
Ensembl Acc Id: ENSP00000476264   ⟸   ENST00000608988
RefSeq Acc Id: XP_047282572   ⟸   XM_047426616
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282574   ⟸   XM_047426618
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282570   ⟸   XM_047426614
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282575   ⟸   XM_047426619
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047282567   ⟸   XM_047426611
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282576   ⟸   XM_047426620
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047282568   ⟸   XM_047426612
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282571   ⟸   XM_047426615
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282569   ⟸   XM_047426613
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282573   ⟸   XM_047426617
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282578   ⟸   XM_047426622
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047282577   ⟸   XM_047426621
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054224087   ⟸   XM_054368112
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224089   ⟸   XM_054368114
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224085   ⟸   XM_054368110
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224090   ⟸   XM_054368115
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054224082   ⟸   XM_054368107
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224081   ⟸   XM_054368106
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054224091   ⟸   XM_054368116
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054224083   ⟸   XM_054368108
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224086   ⟸   XM_054368111
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224084   ⟸   XM_054368109
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224080   ⟸   XM_054368105
- Peptide Label: isoform X1
- UniProtKB: Q9UPX8 (UniProtKB/Swiss-Prot),   Q52LK2 (UniProtKB/Swiss-Prot),   Q3Y8G9 (UniProtKB/Swiss-Prot),   C0SPG9 (UniProtKB/Swiss-Prot),   C0SPG8 (UniProtKB/Swiss-Prot),   Q9UKP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054224088   ⟸   XM_054368113
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224093   ⟸   XM_054368118
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054224092   ⟸   XM_054368117
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054224094   ⟸   XM_054368119
- Peptide Label: isoform X7
- UniProtKB: A0A590UJ45 (UniProtKB/TrEMBL)
Protein Domains
PDZ   SAM   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPX8-F1-model_v2 AlphaFold Q9UPX8 1-1470 view protein structure

Promoters
RGD ID:7221383
Promoter ID:EPDNEW_H16438
Type:initiation region
Name:SHANK2_1
Description:SH3 and multiple ankyrin repeat domains 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,661,841 - 70,661,901EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14295 AgrOrtholog
COSMIC SHANK2 COSMIC
Ensembl Genes ENSG00000162105 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338508 ENTREZGENE
  ENST00000338508.9 UniProtKB/TrEMBL
  ENST00000409161.5 UniProtKB/TrEMBL
  ENST00000412252.6 UniProtKB/TrEMBL
  ENST00000426687.2 UniProtKB/TrEMBL
  ENST00000601538 ENTREZGENE
  ENST00000601538.6 UniProtKB/Swiss-Prot
  ENST00000645599.1 UniProtKB/TrEMBL
  ENST00000654939.1 UniProtKB/TrEMBL
  ENST00000656230 ENTREZGENE
  ENST00000656230.1 UniProtKB/Swiss-Prot
  ENST00000659264 ENTREZGENE
  ENST00000659264.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot
GTEx ENSG00000162105 GTEx
HGNC ID HGNC:14295 ENTREZGENE
Human Proteome Map SHANK2 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_f0 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot
  SH3_domain UniProtKB/Swiss-Prot
  SHANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22941 UniProtKB/Swiss-Prot
NCBI Gene 22941 ENTREZGENE
OMIM 603290 OMIM
PANTHER SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot
  Ank_4 UniProtKB/TrEMBL
  FERM_f0 UniProtKB/Swiss-Prot
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_2 UniProtKB/Swiss-Prot
PharmGKB PA37867 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y2H5_HUMAN UniProtKB/TrEMBL
  A0A590UJ45 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJF3_HUMAN UniProtKB/TrEMBL
  A6NHU9