REL (REL proto-oncogene, NF-kB subunit) - Rat Genome Database

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Advanced Search (OLGA)
Gene: REL (REL proto-oncogene, NF-kB subunit) Homo sapiens
Analyze
Symbol: REL
Name: REL proto-oncogene, NF-kB subunit
RGD ID: 1322580
HGNC Page HGNC:9954
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of interferon-beta production; positive regulation of canonical NF-kappaB signal transduction; and positive regulation of transcription by RNA polymerase II. Part of nucleus. Implicated in immunodeficiency 92. Biomarker of breast cancer and transitional cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-Rel; C-Rel proto-oncogene protein; HIVEN86A; IMD92; oncogene REL, avian reticuloendotheliosis; proto-oncogene c-Rel; v-rel avian reticuloendotheliosis viral oncogene homolog; v-rel reticuloendotheliosis viral oncogene homolog
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
GRCh38260,881,574 - 60,931,612 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl260,881,491 - 60,931,612 (+)EnsemblGRCh38hg38GRCh38
GRCh37261,108,709 - 61,158,747 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36260,962,256 - 61,003,682 (+)NCBINCBI36Build 36hg18NCBI36
Build 34261,020,402 - 61,061,829NCBI
Celera260,952,347 - 60,993,771 (+)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef260,850,654 - 60,892,025 (+)NCBIHuRef
CHM1_1261,039,153 - 61,080,572 (+)NCBICHM1_1
T2T-CHM13v2.0260,887,420 - 60,937,448 (+)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)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-noradrenaline  (EXP)
17beta-estradiol  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-tert-butylhydroquinone  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis,11-trans-octadecadienoic acid  (ISO)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amphotericin B  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
bathocuproine disulfonic acid  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP,ISO)
cannabidiol  (EXP)
carbon monoxide  (EXP)
carmustine  (ISO)
CCCP  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
cocaine  (ISO)
crocidolite asbestos  (ISO)
curcumin  (EXP)
DDE  (EXP)
deoxynivalenol  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
fluvastatin  (EXP)
formaldehyde  (EXP)
fucoidan  (EXP)
gemcitabine  (EXP)
genistein  (EXP)
hydrogen peroxide  (EXP,ISO)
ionomycin  (EXP)
isotretinoin  (ISO)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
lipoarabinomannan  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
LY294002  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nystatin  (ISO)
o-anisidine  (EXP)
oxybenzone  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenethyl isothiocyanate  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP)
piperine  (EXP)
protein kinase inhibitor  (EXP)
pyrrolidine dithiocarbamate  (EXP,ISO)
resveratrol  (EXP,ISO)
ritonavir  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
scoparone  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
tacrolimus hydrate  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
torcetrapib  (EXP)
trifluoperazine  (ISO)
triphenyl phosphate  (EXP)
trovafloxacin  (ISO)
tunicamycin  (ISO)
urethane  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
vitamin E  (EXP,ISO)
wortmannin  (EXP)
zearalenone  (ISO)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytoplasm  (IBA,IEA,ISO)
cytosol  (TAS)
NF-kappaB complex  (NAS)
nucleoplasm  (TAS)
nucleus  (IBA,IEA,IMP,ISO)

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

References - curated
# Reference Title Reference Citation
1. NF-κB1, NF-κB2 and c-Rel differentially regulate susceptibility to colitis-associated adenoma development in C57BL/6 mice. Burkitt MD, etal., J Pathol. 2015 Jul;236(3):326-36. doi: 10.1002/path.4527. Epub 2015 Apr 21.
2. Signaling mediated by the NF-κB sub-units NF-κB1, NF-κB2 and c-Rel differentially regulate Helicobacter felis-induced gastric carcinogenesis in C57BL/6 mice. Burkitt MD, etal., Oncogene. 2013 Dec 12;32(50):5563-73. doi: 10.1038/onc.2013.334. Epub 2013 Aug 26.
3. Selective activation of NF-kappa B subunits in human breast cancer: potential roles for NF-kappa B2/p52 and for Bcl-3. Cogswell PC, etal., Oncogene. 2000 Feb 24;19(9):1123-31.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Shared principles in NF-kappaB signaling. Hayden MS and Ghosh S, Cell. 2008 Feb 8;132(3):344-62.
6. Abnormalities in the NF-kappaB family and related proteins in endometrial carcinoma. Pallares J, etal., J Pathol. 2004 Dec;204(5):569-77.
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Mouse mammary tumor virus c-rel transgenic mice develop mammary tumors. Romieu-Mourez R, etal., Mol Cell Biol. 2003 Aug;23(16):5738-54.
10. [Expression of NF-kappa B in human bladder cancer and its clinical significance] Xie DH, etal., Ai Zheng. 2002 Jun;21(6):663-7.
Additional References at PubMed
PMID:1406630   PMID:1437141   PMID:1549370   PMID:1577270   PMID:1620118   PMID:1650444   PMID:1727488   PMID:1740106   PMID:1891714   PMID:2155506   PMID:2666912   PMID:3016517  
PMID:3529946   PMID:7862168   PMID:7886940   PMID:7929355   PMID:7933095   PMID:8139561   PMID:8152812   PMID:8413211   PMID:8413269   PMID:8415639   PMID:8423996   PMID:8510222  
PMID:8547649   PMID:8621542   PMID:8666258   PMID:8670842   PMID:8887627   PMID:9058790   PMID:9135156   PMID:9250404   PMID:9315679   PMID:9510190   PMID:9639522   PMID:9731206  
PMID:9769479   PMID:9837938   PMID:9950430   PMID:10329626   PMID:10498867   PMID:10562553   PMID:10602468   PMID:10706725   PMID:11254713   PMID:11587641   PMID:11830490   PMID:11830502  
PMID:11967310   PMID:11971907   PMID:12477932   PMID:12478664   PMID:12504005   PMID:12511414   PMID:12556500   PMID:12588973   PMID:12761501   PMID:12829026   PMID:14534540   PMID:14615382  
PMID:14702039   PMID:14743216   PMID:14744759   PMID:14961076   PMID:15024091   PMID:15143182   PMID:15146197   PMID:15551733   PMID:15578091   PMID:15660915   PMID:15799966   PMID:15870177  
PMID:16319921   PMID:16896156   PMID:17011549   PMID:17243160   PMID:17335903   PMID:18006812   PMID:18037997   PMID:18089804   PMID:18434448   PMID:18466468   PMID:18593911   PMID:18660489  
PMID:18695674   PMID:18990758   PMID:19110719   PMID:19240061   PMID:19274049   PMID:19503088   PMID:19573080   PMID:19706790   PMID:19773279   PMID:19913121   PMID:19945995   PMID:19948376  
PMID:20038977   PMID:20190752   PMID:20228198   PMID:20228799   PMID:20448286   PMID:20453842   PMID:20460684   PMID:20519647   PMID:20568250   PMID:20575024   PMID:20628086   PMID:20801175  
PMID:20876593   PMID:20953190   PMID:21037568   PMID:21102463   PMID:21232847   PMID:21283787   PMID:21402701   PMID:21425313   PMID:21451109   PMID:21490927   PMID:21498517   PMID:21873635  
PMID:21890374   PMID:21933882   PMID:21984918   PMID:21988832   PMID:22065573   PMID:22170493   PMID:22412388   PMID:22459418   PMID:22580300   PMID:22810586   PMID:22955189   PMID:23106574  
PMID:23128233   PMID:23195252   PMID:23892589   PMID:23911423   PMID:23982203   PMID:23982206   PMID:23997224   PMID:24337154   PMID:24338397   PMID:24390342   PMID:24489016   PMID:24529102  
PMID:24550032   PMID:24722188   PMID:24920014   PMID:25266721   PMID:25299780   PMID:25416956   PMID:25472883   PMID:25565375   PMID:25609649   PMID:25842167   PMID:25900982   PMID:25910212  
PMID:25912249   PMID:26186194   PMID:26324762   PMID:26496610   PMID:26673895   PMID:26683819   PMID:26784953   PMID:26871637   PMID:26931521   PMID:26972000   PMID:27107012   PMID:27563808  
PMID:27609421   PMID:27779701   PMID:28090796   PMID:28206956   PMID:28259870   PMID:28514442   PMID:28667172   PMID:28767691   PMID:29084252   PMID:29336650   PMID:29449217   PMID:29507755  
PMID:29892012   PMID:30205516   PMID:30466153   PMID:30886144   PMID:31103457   PMID:31515488   PMID:31768922   PMID:31986466   PMID:32282963   PMID:32296183   PMID:32331232   PMID:32587091  
PMID:32659596   PMID:32911434   PMID:33011338   PMID:33484966   PMID:33961781   PMID:33995369   PMID:35140242   PMID:35217585   PMID:35271311   PMID:35509820   PMID:35575683   PMID:35831314  
PMID:36114006   PMID:36217029   PMID:36217030  


Genomics

Comparative Map Data
REL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38260,881,574 - 60,931,612 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl260,881,491 - 60,931,612 (+)EnsemblGRCh38hg38GRCh38
GRCh37261,108,709 - 61,158,747 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36260,962,256 - 61,003,682 (+)NCBINCBI36Build 36hg18NCBI36
Build 34261,020,402 - 61,061,829NCBI
Celera260,952,347 - 60,993,771 (+)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef260,850,654 - 60,892,025 (+)NCBIHuRef
CHM1_1261,039,153 - 61,080,572 (+)NCBICHM1_1
T2T-CHM13v2.0260,887,420 - 60,937,448 (+)NCBIT2T-CHM13v2.0
Rel
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391123,686,847 - 23,720,969 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1123,686,847 - 23,720,970 (-)EnsemblGRCm39 Ensembl
GRCm381123,736,847 - 23,770,969 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1123,736,847 - 23,770,970 (-)EnsemblGRCm38mm10GRCm38
MGSCv371123,641,729 - 23,670,970 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361123,641,990 - 23,670,970 (-)NCBIMGSCv36mm8
Celera1125,863,742 - 25,892,886 (-)NCBICelera
Cytogenetic Map11A3.2NCBI
cM Map1114.36NCBI
Rel
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr814101,891,238 - 101,922,324 (-)NCBIGRCr8
mRatBN7.21497,690,105 - 97,721,194 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1497,695,161 - 97,720,892 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.014108,490,794 - 108,517,582 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14108,491,069 - 108,509,892 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.014108,212,714 - 108,238,553 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414104,645,370 - 104,671,275 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.114104,664,855 - 104,689,687 (-)NCBI
Celera1496,671,067 - 96,689,938 (-)NCBICelera
Cytogenetic Map14q22NCBI
Rel
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542422,911,541 - 22,939,651 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542422,909,035 - 22,939,651 (-)NCBIChiLan1.0ChiLan1.0
REL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21265,446,373 - 65,496,842 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A65,458,688 - 65,500,793 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A60,972,022 - 61,013,562 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A62,113,581 - 62,155,241 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A62,113,581 - 62,155,241 (+)Ensemblpanpan1.1panPan2
REL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11060,990,264 - 61,030,162 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1060,990,197 - 61,023,663 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1060,878,772 - 60,922,447 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01061,997,356 - 62,041,015 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1061,997,563 - 62,030,500 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11061,697,560 - 61,740,683 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01061,984,931 - 62,028,604 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01062,277,508 - 62,321,170 (+)NCBIUU_Cfam_GSD_1.0
Rel
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629222,137,080 - 22,165,823 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364916,405,515 - 6,436,510 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364916,405,493 - 6,435,096 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
REL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl380,872,255 - 80,911,939 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1380,861,862 - 80,912,233 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2384,966,717 - 85,003,490 (-)NCBISscrofa10.2Sscrofa10.2susScr3
REL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11446,068,212 - 46,097,226 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1446,068,014 - 46,096,802 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604565,685,304 - 65,731,499 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rel
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248331,022,656 - 1,053,342 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248331,016,330 - 1,053,514 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in REL
193 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1 copy number loss See cases [RCV000050796] Chr2:59658846..62336083 [GRCh38]
Chr2:59885981..62563218 [GRCh37]
Chr2:59739485..62416722 [NCBI36]
Chr2:2p16.1-15		 pathogenic
GRCh38/hg38 2p16.1-15(chr2:60803569-61070455)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052124]|See cases [RCV000052124] Chr2:60803569..61070455 [GRCh38]
Chr2:61030704..61297590 [GRCh37]
Chr2:60884208..61151094 [NCBI36]
Chr2:2p16.1-15		 uncertain significance
GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3 copy number gain See cases [RCV000052660] Chr2:60009106..62006709 [GRCh38]
Chr2:60236241..62233844 [GRCh37]
Chr2:60089745..62087348 [NCBI36]
Chr2:2p16.1-15		 uncertain significance
GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1 copy number loss See cases [RCV000054020] Chr2:56738054..62473668 [GRCh38]
Chr2:56965189..62700803 [GRCh37]
Chr2:56818693..62554307 [NCBI36]
Chr2:2p16.1-15		 pathogenic
GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1 copy number loss See cases [RCV000054021] Chr2:57249378..61842734 [GRCh38]
Chr2:57476513..62069869 [GRCh37]
Chr2:57330017..61923373 [NCBI36]
Chr2:2p16.1-15		 pathogenic
GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1 copy number loss See cases [RCV000054022] Chr2:58873039..64190332 [GRCh38]
Chr2:59100174..64417466 [GRCh37]
Chr2:58953678..64270970 [NCBI36]
Chr2:2p16.1-14		 pathogenic
GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1 copy number loss See cases [RCV000054052] Chr2:59224998..61621710 [GRCh38]
Chr2:59452133..61848845 [GRCh37]
Chr2:59305637..61702349 [NCBI36]
Chr2:2p16.1-15		 pathogenic
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2		 pathogenic
GRCh38/hg38 2p16.1(chr2:60886284-60922484)x1 copy number loss See cases [RCV000135888] Chr2:60886284..60922484 [GRCh38]
Chr2:61113419..61149619 [GRCh37]
Chr2:60966923..61003123 [NCBI36]
Chr2:2p16.1		 benign
GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3 copy number gain See cases [RCV000137542] Chr2:60359313..61775405 [GRCh38]
Chr2:60586448..62002540 [GRCh37]
Chr2:60439952..61856044 [NCBI36]
Chr2:2p16.1-15		 uncertain significance
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2		 uncertain significance
GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3 copy number gain See cases [RCV000139201] Chr2:60359313..61704436 [GRCh38]
Chr2:60586448..61931571 [GRCh37]
Chr2:60439952..61785075 [NCBI36]
Chr2:2p16.1-15		 likely pathogenic|likely benign
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1 copy number loss See cases [RCV000143007] Chr2:58031916..63611810 [GRCh38]
Chr2:58259051..63838944 [GRCh37]
Chr2:58112555..63692448 [NCBI36]
Chr2:2p16.1-15		 pathogenic
GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3 copy number gain See cases [RCV000239924] Chr2:60405806..62442792 [GRCh37]
Chr2:2p16.1-15		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p16.1-15(chr2:58837279-63720819)x1 copy number loss See cases [RCV000449133] Chr2:58837279..63720819 [GRCh37]
Chr2:2p16.1-15		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p16.1-15(chr2:60308869-62368583) copy number gain Global developmental delay [RCV000626531] Chr2:60308869..62368583 [GRCh37]
Chr2:2p16.1-15		 likely pathogenic
GRCh37/hg19 2p16.1(chr2:60719185-61268266)x1 copy number loss not provided [RCV000682084] Chr2:60719185..61268266 [GRCh37]
Chr2:2p16.1		 likely pathogenic
GRCh37/hg19 2p16.1-15(chr2:60339550-61374752)x3 copy number gain not provided [RCV000682113] Chr2:60339550..61374752 [GRCh37]
Chr2:2p16.1-15		 uncertain significance
GRCh37/hg19 2p16.1-15(chr2:60573620-61767847)x3 copy number gain not provided [RCV000682120] Chr2:60573620..61767847 [GRCh37]
Chr2:2p16.1-15		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001291746.2(REL):c.1201A>G (p.Thr401Ala) single nucleotide variant not provided [RCV000897994] Chr2:60921972 [GRCh38]
Chr2:61149107 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.192A>G (p.Thr64=) single nucleotide variant not provided [RCV000965603] Chr2:60894435 [GRCh38]
Chr2:61121570 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.1656T>G (p.Thr552=) single nucleotide variant not provided [RCV000933228] Chr2:60922427 [GRCh38]
Chr2:61149562 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1632T>C (p.Asn544=) single nucleotide variant not provided [RCV000964862] Chr2:60922403 [GRCh38]
Chr2:61149538 [GRCh37]
Chr2:2p16.1		 benign
GRCh37/hg19 2p16.1-15(chr2:57445335-62733206) copy number loss not provided [RCV000767552] Chr2:57445335..62733206 [GRCh37]
Chr2:2p16.1-15		 likely pathogenic
NM_001291746.2(REL):c.992-7C>A single nucleotide variant not provided [RCV001090969] Chr2:60921756 [GRCh38]
Chr2:61148891 [GRCh37]
Chr2:2p16.1		 pathogenic|benign|likely benign
NM_001291746.2(REL):c.1082C>G (p.Pro361Arg) single nucleotide variant not provided [RCV000973306] Chr2:60921853 [GRCh38]
Chr2:61148988 [GRCh37]
Chr2:2p16.1		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001291746.2(REL):c.923-201G>T single nucleotide variant not provided [RCV003108802] Chr2:60920373 [GRCh38]
Chr2:61147508 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.535+1G>A single nucleotide variant Immunodeficiency 92 [RCV001794567] Chr2:60917018 [GRCh38]
Chr2:61144153 [GRCh37]
Chr2:2p16.1		 pathogenic
NM_001291746.2(REL):c.395-1G>A single nucleotide variant Immunodeficiency 92 [RCV001794568] Chr2:60916876 [GRCh38]
Chr2:61144011 [GRCh37]
Chr2:2p16.1		 pathogenic
NC_000002.11:g.(?_61108976)_(62081176_?)del deletion Peroxisome biogenesis disorder 11A (Zellweger) [RCV001975094] Chr2:61108976..62081176 [GRCh37]
Chr2:2p16.1-15		 pathogenic
NM_001291746.2(REL):c.313T>C (p.Leu105=) single nucleotide variant not provided [RCV003116904] Chr2:60901002 [GRCh38]
Chr2:61128137 [GRCh37]
Chr2:2p16.1		 likely benign
NC_000002.11:g.(?_61108976)_(61275905_?)del deletion not provided [RCV003113152] Chr2:61108976..61275905 [GRCh37]
Chr2:2p16.1		 pathogenic
NC_000002.11:g.(?_61108976)_(61275905_?)dup duplication not provided [RCV003113153] Chr2:61108976..61275905 [GRCh37]
Chr2:2p16.1		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p16.1(chr2:61039123-61178193)x1 copy number loss not provided [RCV002474705] Chr2:61039123..61178193 [GRCh37]
Chr2:2p16.1		 uncertain significance
GRCh37/hg19 2p16.1-15(chr2:60680467-61527143)x3 copy number gain not provided [RCV002474560] Chr2:60680467..61527143 [GRCh37]
Chr2:2p16.1-15		 likely pathogenic
NM_001291746.2(REL):c.1305T>C (p.Asp435=) single nucleotide variant not provided [RCV002994562] Chr2:60922076 [GRCh38]
Chr2:61149211 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.923-17A>C single nucleotide variant not provided [RCV002750259] Chr2:60920557 [GRCh38]
Chr2:61147692 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1445T>C (p.Leu482Pro) single nucleotide variant not provided [RCV002842129] Chr2:60922216 [GRCh38]
Chr2:61149351 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.923-84C>A single nucleotide variant not provided [RCV003011939] Chr2:60920490 [GRCh38]
Chr2:61147625 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1666A>G (p.Ser556Gly) single nucleotide variant not provided [RCV002858677]|not specified [RCV004847929] Chr2:60922437 [GRCh38]
Chr2:61149572 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1067A>G (p.Tyr356Cys) single nucleotide variant not provided [RCV002972473]|not specified [RCV004065129] Chr2:60921838 [GRCh38]
Chr2:61148973 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.10+12T>C single nucleotide variant not provided [RCV002750437] Chr2:60881862 [GRCh38]
Chr2:61108997 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1362T>C (p.Ser454=) single nucleotide variant not provided [RCV002755559] Chr2:60922133 [GRCh38]
Chr2:61149268 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-17A>G single nucleotide variant not provided [RCV002863768] Chr2:60920557 [GRCh38]
Chr2:61147692 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.889A>T (p.Thr297Ser) single nucleotide variant not provided [RCV002755544] Chr2:60920076 [GRCh38]
Chr2:61147211 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.923-142A>G single nucleotide variant not provided [RCV002907876] Chr2:60920432 [GRCh38]
Chr2:61147567 [GRCh37]
Chr2:2p16.1		 benign|likely benign
NM_001291746.2(REL):c.1577A>T (p.Gln526Leu) single nucleotide variant not provided [RCV002838185] Chr2:60922348 [GRCh38]
Chr2:61149483 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.922+19G>T single nucleotide variant not provided [RCV003014014] Chr2:60920128 [GRCh38]
Chr2:61147263 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1036A>G (p.Thr346Ala) single nucleotide variant not provided [RCV003033224] Chr2:60921807 [GRCh38]
Chr2:61148942 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.183G>A (p.Val61=) single nucleotide variant not provided [RCV002755863] Chr2:60894426 [GRCh38]
Chr2:61121561 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1352A>G (p.Tyr451Cys) single nucleotide variant not provided [RCV003016461]|not specified [RCV004068576] Chr2:60922123 [GRCh38]
Chr2:61149258 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.965T>C (p.Ile322Thr) single nucleotide variant not provided [RCV002971732] Chr2:60920616 [GRCh38]
Chr2:61147751 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1143A>G (p.Ser381=) single nucleotide variant not provided [RCV003020863] Chr2:60921914 [GRCh38]
Chr2:61149049 [GRCh37]
Chr2:2p16.1		 likely benign|uncertain significance
NM_001291746.2(REL):c.1115T>A (p.Met372Lys) single nucleotide variant not provided [RCV002796432] Chr2:60921886 [GRCh38]
Chr2:61149021 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.323G>A (p.Arg108Gln) single nucleotide variant not provided [RCV003055607] Chr2:60901012 [GRCh38]
Chr2:61128147 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1573T>C (p.Ser525Pro) single nucleotide variant not provided [RCV002953717]|not specified [RCV004068036] Chr2:60922344 [GRCh38]
Chr2:61149479 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.670G>A (p.Asp224Asn) single nucleotide variant not provided [RCV003002837]|not specified [RCV004673760] Chr2:60918423 [GRCh38]
Chr2:61145558 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1165C>T (p.Arg389Cys) single nucleotide variant not specified [RCV004082870] Chr2:60921936 [GRCh38]
Chr2:61149071 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1532G>A (p.Ser511Asn) single nucleotide variant not specified [RCV004193064] Chr2:60922303 [GRCh38]
Chr2:61149438 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.394+3A>G single nucleotide variant not provided [RCV003037591] Chr2:60901086 [GRCh38]
Chr2:61128221 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.912C>T (p.Cys304=) single nucleotide variant not provided [RCV002885049] Chr2:60920099 [GRCh38]
Chr2:61147234 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1202C>T (p.Thr401Ile) single nucleotide variant not provided [RCV002999266] Chr2:60921973 [GRCh38]
Chr2:61149108 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.258C>T (p.Asp86=) single nucleotide variant not provided [RCV002760722] Chr2:60894501 [GRCh38]
Chr2:61121636 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.513C>T (p.Val171=) single nucleotide variant not provided [RCV003018139] Chr2:60916995 [GRCh38]
Chr2:61144130 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.395-15T>C single nucleotide variant not provided [RCV003021525] Chr2:60916862 [GRCh38]
Chr2:61143997 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.766C>T (p.Pro256Ser) single nucleotide variant not specified [RCV004212505] Chr2:60918519 [GRCh38]
Chr2:61145654 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.789G>A (p.Leu263=) single nucleotide variant not provided [RCV003035846] Chr2:60918542 [GRCh38]
Chr2:61145677 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1443A>G (p.Arg481=) single nucleotide variant not provided [RCV002866725] Chr2:60922214 [GRCh38]
Chr2:61149349 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.640+2TATT[2] microsatellite not provided [RCV003080386] Chr2:60918297..60918300 [GRCh38]
Chr2:61145432..61145435 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1035T>C (p.Pro345=) single nucleotide variant not provided [RCV002979816] Chr2:60921806 [GRCh38]
Chr2:61148941 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-82C>T single nucleotide variant not provided [RCV002923629] Chr2:60920492 [GRCh38]
Chr2:61147627 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1034C>G (p.Pro345Arg) single nucleotide variant not provided [RCV002735986] Chr2:60921805 [GRCh38]
Chr2:61148940 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1219A>G (p.Asn407Asp) single nucleotide variant not provided [RCV003037843] Chr2:60921990 [GRCh38]
Chr2:61149125 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.491C>T (p.Thr164Met) single nucleotide variant not provided [RCV002591568] Chr2:60916973 [GRCh38]
Chr2:61144108 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1737C>T (p.Ser579=) single nucleotide variant not provided [RCV002736520] Chr2:60922508 [GRCh38]
Chr2:61149643 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.303-3T>C single nucleotide variant not provided [RCV002780530] Chr2:60900989 [GRCh38]
Chr2:61128124 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1302C>T (p.Ala434=) single nucleotide variant not provided [RCV002999347] Chr2:60922073 [GRCh38]
Chr2:61149208 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1709G>A (p.Ser570Asn) single nucleotide variant not provided [RCV002591910] Chr2:60922480 [GRCh38]
Chr2:61149615 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.128A>G (p.Asn43Ser) single nucleotide variant not provided [RCV003037507] Chr2:60891800 [GRCh38]
Chr2:61118935 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.10+11A>T single nucleotide variant not provided [RCV002735644] Chr2:60881861 [GRCh38]
Chr2:61108996 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.395-19A>T single nucleotide variant not provided [RCV002736190] Chr2:60916858 [GRCh38]
Chr2:61143993 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-81G>A single nucleotide variant not provided [RCV002745868] Chr2:60920493 [GRCh38]
Chr2:61147628 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.922+18C>T single nucleotide variant not provided [RCV002740795] Chr2:60920127 [GRCh38]
Chr2:61147262 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.922+12T>C single nucleotide variant not provided [RCV003040487] Chr2:60920121 [GRCh38]
Chr2:61147256 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.133C>A (p.Arg45=) single nucleotide variant not provided [RCV002919172] Chr2:60891805 [GRCh38]
Chr2:61118940 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1295A>C (p.Asn432Thr) single nucleotide variant not provided [RCV003008029] Chr2:60922066 [GRCh38]
Chr2:61149201 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1749A>T (p.Glu583Asp) single nucleotide variant not provided [RCV002741758] Chr2:60922520 [GRCh38]
Chr2:61149655 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1567T>G (p.Phe523Val) single nucleotide variant not provided [RCV002574593] Chr2:60922338 [GRCh38]
Chr2:61149473 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1620C>T (p.Asn540=) single nucleotide variant not provided [RCV002982821] Chr2:60922391 [GRCh38]
Chr2:61149526 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1688G>A (p.Ser563Asn) single nucleotide variant not provided [RCV003040463] Chr2:60922459 [GRCh38]
Chr2:61149594 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.923-77G>A single nucleotide variant not provided [RCV002740777] Chr2:60920497 [GRCh38]
Chr2:61147632 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1167C>T (p.Arg389=) single nucleotide variant not provided [RCV002741019] Chr2:60921938 [GRCh38]
Chr2:61149073 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-78C>T single nucleotide variant not provided [RCV002740537] Chr2:60920496 [GRCh38]
Chr2:61147631 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.289C>T (p.Arg97Cys) single nucleotide variant not provided [RCV002740550] Chr2:60894532 [GRCh38]
Chr2:61121667 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1114A>G (p.Met372Val) single nucleotide variant not provided [RCV002623328]|not specified [RCV004069101] Chr2:60921885 [GRCh38]
Chr2:61149020 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1556A>G (p.Asn519Ser) single nucleotide variant not specified [RCV004223209] Chr2:60922327 [GRCh38]
Chr2:61149462 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1064A>C (p.Tyr355Ser) single nucleotide variant not provided [RCV002595658] Chr2:60921835 [GRCh38]
Chr2:61148970 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1363G>C (p.Asp455His) single nucleotide variant not provided [RCV002852398] Chr2:60922134 [GRCh38]
Chr2:61149269 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.171A>G (p.Gly57=) single nucleotide variant not provided [RCV002928307] Chr2:60894414 [GRCh38]
Chr2:61121549 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.923-201G>C single nucleotide variant not provided [RCV002766090] Chr2:60920373 [GRCh38]
Chr2:61147508 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1204A>G (p.Arg402Gly) single nucleotide variant not specified [RCV004112409] Chr2:60921975 [GRCh38]
Chr2:61149110 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.395-18T>A single nucleotide variant not provided [RCV002740825] Chr2:60916859 [GRCh38]
Chr2:61143994 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.1065C>T (p.Tyr355=) single nucleotide variant not provided [RCV003085303] Chr2:60921836 [GRCh38]
Chr2:61148971 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.395-9del deletion not provided [RCV002740914] Chr2:60916859 [GRCh38]
Chr2:61143994 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.138A>G (p.Thr46=) single nucleotide variant not provided [RCV002829079] Chr2:60891810 [GRCh38]
Chr2:61118945 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.395-9dup duplication not provided [RCV002741001] Chr2:60916858..60916859 [GRCh38]
Chr2:61143993..61143994 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.24G>A (p.Pro8=) single nucleotide variant not provided [RCV002914524] Chr2:60891696 [GRCh38]
Chr2:61118831 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1326G>A (p.Ala442=) single nucleotide variant not provided [RCV002914644] Chr2:60922097 [GRCh38]
Chr2:61149232 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1231A>G (p.Ile411Val) single nucleotide variant not provided [RCV003026451] Chr2:60922002 [GRCh38]
Chr2:61149137 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1759G>A (p.Val587Ile) single nucleotide variant not provided [RCV003026760] Chr2:60922530 [GRCh38]
Chr2:61149665 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1062C>G (p.Ser354=) single nucleotide variant not provided [RCV003031533] Chr2:60921833 [GRCh38]
Chr2:61148968 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.6C>A (p.Ala2=) single nucleotide variant not provided [RCV003028677] Chr2:60881846 [GRCh38]
Chr2:61108981 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1298A>G (p.Asn433Ser) single nucleotide variant not provided [RCV002746772] Chr2:60922069 [GRCh38]
Chr2:61149204 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.861C>T (p.Tyr287=) single nucleotide variant not provided [RCV003063348] Chr2:60920048 [GRCh38]
Chr2:61147183 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1659T>C (p.Asn553=) single nucleotide variant not provided [RCV002856746] Chr2:60922430 [GRCh38]
Chr2:61149565 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.853+19_853+20delinsGG indel not provided [RCV003029217] Chr2:60918625..60918626 [GRCh38]
Chr2:61145760..61145761 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1224G>A (p.Ser408=) single nucleotide variant not provided [RCV003011122] Chr2:60921995 [GRCh38]
Chr2:61149130 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.834A>G (p.Arg278=) single nucleotide variant not provided [RCV003063096] Chr2:60918587 [GRCh38]
Chr2:61145722 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.618A>G (p.Leu206=) single nucleotide variant not provided [RCV002811851] Chr2:60918273 [GRCh38]
Chr2:61145408 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.153+17C>T single nucleotide variant not provided [RCV003047517] Chr2:60891842 [GRCh38]
Chr2:61118977 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1637C>T (p.Ser546Leu) single nucleotide variant not provided [RCV003030074] Chr2:60922408 [GRCh38]
Chr2:61149543 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.392A>G (p.Asn131Ser) single nucleotide variant not provided [RCV002746535] Chr2:60901081 [GRCh38]
Chr2:61128216 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.641-17G>T single nucleotide variant not provided [RCV002877339] Chr2:60918377 [GRCh38]
Chr2:61145512 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1067A>T (p.Tyr356Phe) single nucleotide variant not provided [RCV002988864] Chr2:60921838 [GRCh38]
Chr2:61148973 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.754G>A (p.Ala252Thr) single nucleotide variant not provided [RCV002834490] Chr2:60918507 [GRCh38]
Chr2:61145642 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1638G>A (p.Ser546=) single nucleotide variant not provided [RCV002651610] Chr2:60922409 [GRCh38]
Chr2:61149544 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1303G>A (p.Asp435Asn) single nucleotide variant not provided [RCV002603474]|not specified [RCV004069035] Chr2:60922074 [GRCh38]
Chr2:61149209 [GRCh37]
Chr2:2p16.1		 likely benign|uncertain significance
NM_001291746.2(REL):c.132C>T (p.Asn44=) single nucleotide variant not provided [RCV002746574] Chr2:60891804 [GRCh38]
Chr2:61118939 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1175A>G (p.Asn392Ser) single nucleotide variant not provided [RCV002933739] Chr2:60921946 [GRCh38]
Chr2:61149081 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.539C>T (p.Ala180Val) single nucleotide variant not provided [RCV003046193] Chr2:60918194 [GRCh38]
Chr2:61145329 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1428G>A (p.Glu476=) single nucleotide variant not provided [RCV002602311] Chr2:60922199 [GRCh38]
Chr2:61149334 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1018G>A (p.Val340Ile) single nucleotide variant not provided [RCV003091102]|not specified [RCV004071831] Chr2:60921789 [GRCh38]
Chr2:61148924 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.10+10C>T single nucleotide variant REL-related disorder [RCV003936305]|not provided [RCV002745947] Chr2:60881860 [GRCh38]
Chr2:61108995 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1578A>G (p.Gln526=) single nucleotide variant not provided [RCV002922992] Chr2:60922349 [GRCh38]
Chr2:61149484 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.492G>A (p.Thr164=) single nucleotide variant not provided [RCV002606422] Chr2:60916974 [GRCh38]
Chr2:61144109 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.154-10C>G single nucleotide variant not provided [RCV002609505] Chr2:60894387 [GRCh38]
Chr2:61121522 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.995C>T (p.Pro332Leu) single nucleotide variant not provided [RCV002611641] Chr2:60921766 [GRCh38]
Chr2:61148901 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.394+20T>G single nucleotide variant not provided [RCV003050275] Chr2:60901103 [GRCh38]
Chr2:61128238 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1467C>T (p.Asn489=) single nucleotide variant not provided [RCV003068905] Chr2:60922238 [GRCh38]
Chr2:61149373 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.767C>A (p.Pro256His) single nucleotide variant not provided [RCV002582358] Chr2:60918520 [GRCh38]
Chr2:61145655 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.713G>A (p.Arg238His) single nucleotide variant not specified [RCV004273004] Chr2:60918466 [GRCh38]
Chr2:61145601 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.604G>A (p.Asp202Asn) single nucleotide variant not specified [RCV004351268] Chr2:60918259 [GRCh38]
Chr2:61145394 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.176G>C (p.Gly59Ala) single nucleotide variant not specified [RCV004347855] Chr2:60894419 [GRCh38]
Chr2:61121554 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.10+8T>C single nucleotide variant not provided [RCV003570630] Chr2:60881858 [GRCh38]
Chr2:61108993 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.498T>C (p.Ala166=) single nucleotide variant not provided [RCV003570402] Chr2:60916980 [GRCh38]
Chr2:61144115 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.302+19A>G single nucleotide variant not provided [RCV003543693] Chr2:60894564 [GRCh38]
Chr2:61121699 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.906A>G (p.Lys302=) single nucleotide variant not provided [RCV003426983] Chr2:60920093 [GRCh38]
Chr2:61147228 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.589A>G (p.Ser197Gly) single nucleotide variant REL-related disorder [RCV003412161] Chr2:60918244 [GRCh38]
Chr2:61145379 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.684A>G (p.Lys228=) single nucleotide variant not provided [RCV003576676] Chr2:60918437 [GRCh38]
Chr2:61145572 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-184_923-183del deletion not provided [RCV003659852] Chr2:60920390..60920391 [GRCh38]
Chr2:61147525..61147526 [GRCh37]
Chr2:2p16.1		 pathogenic
NM_001291746.2(REL):c.854-6A>T single nucleotide variant not provided [RCV003713759] Chr2:60920035 [GRCh38]
Chr2:61147170 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.475G>A (p.Glu159Lys) single nucleotide variant not provided [RCV003575893] Chr2:60916957 [GRCh38]
Chr2:61144092 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.303-6T>C single nucleotide variant not provided [RCV003663448] Chr2:60900986 [GRCh38]
Chr2:61128121 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.303-9dup duplication not provided [RCV003715595] Chr2:60900976..60900977 [GRCh38]
Chr2:61128111..61128112 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.330G>T (p.Val110=) single nucleotide variant not provided [RCV003661158] Chr2:60901019 [GRCh38]
Chr2:61128154 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.345A>G (p.Val115=) single nucleotide variant not provided [RCV003544905] Chr2:60901034 [GRCh38]
Chr2:61128169 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.394+8T>C single nucleotide variant not provided [RCV003689118] Chr2:60901091 [GRCh38]
Chr2:61128226 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1545C>T (p.Gly515=) single nucleotide variant not provided [RCV003575842] Chr2:60922316 [GRCh38]
Chr2:61149451 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-142A>C single nucleotide variant not provided [RCV003692660] Chr2:60920432 [GRCh38]
Chr2:61147567 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.910_911del (p.Cys304fs) microsatellite not provided [RCV003547819] Chr2:60920095..60920096 [GRCh38]
Chr2:61147230..61147231 [GRCh37]
Chr2:2p16.1		 pathogenic
NM_001291746.2(REL):c.854-8del deletion not provided [RCV003713758] Chr2:60920033 [GRCh38]
Chr2:61147168 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.854-12C>T single nucleotide variant not provided [RCV003691159] Chr2:60920029 [GRCh38]
Chr2:61147164 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.154-40G>A single nucleotide variant not specified [RCV003489101] Chr2:60894357 [GRCh38]
Chr2:61121492 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.11-79A>G single nucleotide variant not specified [RCV003489217] Chr2:60891604 [GRCh38]
Chr2:61118739 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.192A>C (p.Thr64=) single nucleotide variant not provided [RCV003698630] Chr2:60894435 [GRCh38]
Chr2:61121570 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.516G>A (p.Ser172=) single nucleotide variant not provided [RCV003698086] Chr2:60916998 [GRCh38]
Chr2:61144133 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.853+8A>G single nucleotide variant not provided [RCV003698143] Chr2:60918614 [GRCh38]
Chr2:61145749 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.303-19A>T single nucleotide variant not provided [RCV003697379] Chr2:60900973 [GRCh38]
Chr2:61128108 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.11G>A (p.Gly4Asp) single nucleotide variant not provided [RCV003673252] Chr2:60891683 [GRCh38]
Chr2:61118818 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1761A>G (p.Val587=) single nucleotide variant not provided [RCV003674376] Chr2:60922532 [GRCh38]
Chr2:61149667 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.640+13T>G single nucleotide variant not provided [RCV003663594] Chr2:60918308 [GRCh38]
Chr2:61145443 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.154-14C>T single nucleotide variant not provided [RCV003667173] Chr2:60894383 [GRCh38]
Chr2:61121518 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.555A>G (p.Glu185=) single nucleotide variant not provided [RCV003659214] Chr2:60918210 [GRCh38]
Chr2:61145345 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.303-4C>T single nucleotide variant not provided [RCV003549319] Chr2:60900988 [GRCh38]
Chr2:61128123 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-176G>A single nucleotide variant not provided [RCV003560733] Chr2:60920398 [GRCh38]
Chr2:61147533 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.923-15del deletion not provided [RCV003701009] Chr2:60920555 [GRCh38]
Chr2:61147690 [GRCh37]
Chr2:2p16.1		 benign
NM_001291746.2(REL):c.804C>T (p.Asp268=) single nucleotide variant not provided [RCV003726491] Chr2:60918557 [GRCh38]
Chr2:61145692 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-151A>G single nucleotide variant not provided [RCV003560166] Chr2:60920423 [GRCh38]
Chr2:61147558 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1143A>C (p.Ser381=) single nucleotide variant not provided [RCV003560704] Chr2:60921914 [GRCh38]
Chr2:61149049 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.57G>A (p.Arg19=) single nucleotide variant not provided [RCV003718003] Chr2:60891729 [GRCh38]
Chr2:61118864 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1215T>C (p.Pro405=) single nucleotide variant not provided [RCV003559764] Chr2:60921986 [GRCh38]
Chr2:61149121 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1083C>T (p.Pro361=) single nucleotide variant not provided [RCV003725501] Chr2:60921854 [GRCh38]
Chr2:61148989 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.807G>A (p.Gln269=) single nucleotide variant not provided [RCV003671901] Chr2:60918560 [GRCh38]
Chr2:61145695 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1546G>A (p.Ala516Thr) single nucleotide variant not provided [RCV003659551] Chr2:60922317 [GRCh38]
Chr2:61149452 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.922+19G>A single nucleotide variant not provided [RCV003672834] Chr2:60920128 [GRCh38]
Chr2:61147263 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1473A>G (p.Ser491=) single nucleotide variant not provided [RCV003666464] Chr2:60922244 [GRCh38]
Chr2:61149379 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.297T>A (p.Pro99=) single nucleotide variant not provided [RCV003554182] Chr2:60894540 [GRCh38]
Chr2:61121675 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.922+1G>A single nucleotide variant not provided [RCV003678134] Chr2:60920110 [GRCh38]
Chr2:61147245 [GRCh37]
Chr2:2p16.1		 likely pathogenic
NM_001291746.2(REL):c.923-196T>C single nucleotide variant not provided [RCV003554224] Chr2:60920378 [GRCh38]
Chr2:61147513 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.992-20A>T single nucleotide variant not provided [RCV003562488] Chr2:60921743 [GRCh38]
Chr2:61148878 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.768C>T (p.Pro256=) single nucleotide variant not provided [RCV003709691] Chr2:60918521 [GRCh38]
Chr2:61145656 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.154-12C>T single nucleotide variant not provided [RCV003709761] Chr2:60894385 [GRCh38]
Chr2:61121520 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1366C>G (p.Pro456Ala) single nucleotide variant not provided [RCV003863376] Chr2:60922137 [GRCh38]
Chr2:61149272 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.853+9T>C single nucleotide variant not provided [RCV003685055] Chr2:60918615 [GRCh38]
Chr2:61145750 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.302+8C>A single nucleotide variant not provided [RCV003684054] Chr2:60894553 [GRCh38]
Chr2:61121688 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1148T>C (p.Val383Ala) single nucleotide variant not provided [RCV003551823] Chr2:60921919 [GRCh38]
Chr2:61149054 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.303-13T>C single nucleotide variant not provided [RCV003684576] Chr2:60900979 [GRCh38]
Chr2:61128114 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1509G>C (p.Gln503His) single nucleotide variant Immunodeficiency 92 [RCV005030247]|not provided [RCV003732385] Chr2:60922280 [GRCh38]
Chr2:61149415 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1314C>T (p.Val438=) single nucleotide variant not provided [RCV003565884] Chr2:60922085 [GRCh38]
Chr2:61149220 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1692G>A (p.Gln564=) single nucleotide variant not provided [RCV003720982] Chr2:60922463 [GRCh38]
Chr2:61149598 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.879A>G (p.Lys293=) single nucleotide variant not provided [RCV003731621] Chr2:60920066 [GRCh38]
Chr2:61147201 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1474T>G (p.Cys492Gly) single nucleotide variant not provided [RCV003679296] Chr2:60922245 [GRCh38]
Chr2:61149380 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.923-140C>G single nucleotide variant not provided [RCV003565738] Chr2:60920434 [GRCh38]
Chr2:61147569 [GRCh37]
Chr2:2p16.1		 pathogenic
NM_001291746.2(REL):c.528T>C (p.Tyr176=) single nucleotide variant not provided [RCV003863512] Chr2:60917010 [GRCh38]
Chr2:61144145 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.435C>T (p.Leu145=) single nucleotide variant not provided [RCV003729229] Chr2:60916917 [GRCh38]
Chr2:61144052 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.923-19A>G single nucleotide variant not provided [RCV003675999] Chr2:60920555 [GRCh38]
Chr2:61147690 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1158C>A (p.Pro386=) single nucleotide variant not provided [RCV003556403] Chr2:60921929 [GRCh38]
Chr2:61149064 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1608T>C (p.Ser536=) single nucleotide variant not provided [RCV003705473] Chr2:60922379 [GRCh38]
Chr2:61149514 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.711C>T (p.His237=) single nucleotide variant not provided [RCV003710163] Chr2:60918464 [GRCh38]
Chr2:61145599 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.892C>G (p.Leu298Val) single nucleotide variant not provided [RCV005104657]|not specified [RCV004443807] Chr2:60920079 [GRCh38]
Chr2:61147214 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.157A>G (p.Met53Val) single nucleotide variant not specified [RCV004443805] Chr2:60894400 [GRCh38]
Chr2:61121535 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.281G>A (p.Gly94Glu) single nucleotide variant not specified [RCV004443806] Chr2:60894524 [GRCh38]
Chr2:61121659 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.659T>C (p.Phe220Ser) single nucleotide variant Immunodeficiency 92 [RCV004597211] Chr2:60918412 [GRCh38]
Chr2:61145547 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.28A>G (p.Ile10Val) single nucleotide variant not specified [RCV004863054] Chr2:60891700 [GRCh38]
Chr2:61118835 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.165T>C (p.Tyr55=) single nucleotide variant not provided [RCV005085470] Chr2:60894408 [GRCh38]
Chr2:61121543 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.536-18A>G single nucleotide variant not provided [RCV005147026] Chr2:60918173 [GRCh38]
Chr2:61145308 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.757A>G (p.Ile253Val) single nucleotide variant not provided [RCV005106299] Chr2:60918510 [GRCh38]
Chr2:61145645 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.364A>C (p.Arg122=) single nucleotide variant not provided [RCV005172571] Chr2:60901053 [GRCh38]
Chr2:61128188 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.665T>G (p.Leu222Trp) single nucleotide variant not specified [RCV004849938] Chr2:60918418 [GRCh38]
Chr2:61145553 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1604T>C (p.Phe535Ser) single nucleotide variant not specified [RCV004849939] Chr2:60922375 [GRCh38]
Chr2:61149510 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.854-6A>C single nucleotide variant not provided [RCV005086237] Chr2:60920035 [GRCh38]
Chr2:61147170 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.792G>A (p.Arg264=) single nucleotide variant not provided [RCV005175042] Chr2:60918545 [GRCh38]
Chr2:61145680 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.395-13T>A single nucleotide variant not provided [RCV005182797] Chr2:60916864 [GRCh38]
Chr2:61143999 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1656T>A (p.Thr552=) single nucleotide variant not provided [RCV005193282] Chr2:60922427 [GRCh38]
Chr2:61149562 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.395-12_395-9dup duplication not provided [RCV005124520] Chr2:60916858..60916859 [GRCh38]
Chr2:61143993..61143994 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.372G>A (p.Lys124=) single nucleotide variant not provided [RCV005154890] Chr2:60901061 [GRCh38]
Chr2:61128196 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.535+8C>T single nucleotide variant not provided [RCV005116031] Chr2:60917025 [GRCh38]
Chr2:61144160 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.957C>T (p.Leu319=) single nucleotide variant not provided [RCV005147994] Chr2:60920608 [GRCh38]
Chr2:61147743 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.153+20T>A single nucleotide variant not provided [RCV005204407] Chr2:60891845 [GRCh38]
Chr2:61118980 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.395-14T>C single nucleotide variant not provided [RCV005164873] Chr2:60916863 [GRCh38]
Chr2:61143998 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.1123C>T (p.Leu375=) single nucleotide variant not provided [RCV005166975] Chr2:60921894 [GRCh38]
Chr2:61149029 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.15G>A (p.Ala5=) single nucleotide variant not provided [RCV005083207] Chr2:60891687 [GRCh38]
Chr2:61118822 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.11-5T>C single nucleotide variant not provided [RCV005120667] Chr2:60891678 [GRCh38]
Chr2:61118813 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.750C>T (p.Cys250=) single nucleotide variant not provided [RCV005151857] Chr2:60918503 [GRCh38]
Chr2:61145638 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.564T>C (p.Ile188=) single nucleotide variant not provided [RCV005141721] Chr2:60918219 [GRCh38]
Chr2:61145354 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.395-6A>C single nucleotide variant not provided [RCV005150590] Chr2:60916871 [GRCh38]
Chr2:61144006 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.552A>C (p.Ala184=) single nucleotide variant not provided [RCV005176892] Chr2:60918207 [GRCh38]
Chr2:61145342 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.854-6A>G single nucleotide variant not provided [RCV005154342] Chr2:60920035 [GRCh38]
Chr2:61147170 [GRCh37]
Chr2:2p16.1		 likely benign
NM_001291746.2(REL):c.112G>A (p.Glu38Lys) single nucleotide variant not provided [RCV005180674] Chr2:60891784 [GRCh38]
Chr2:61118919 [GRCh37]
Chr2:2p16.1		 uncertain significance
NM_001291746.2(REL):c.1479T>C (p.Asn493=) single nucleotide variant not provided [RCV005127979] Chr2:60922250 [GRCh38]
Chr2:61149385 [GRCh37]
Chr2:2p16.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3209
Count of miRNA genes:1114
Interacting mature miRNAs:1354
Transcripts:ENST00000295025, ENST00000394479
Prediction methods:Miranda, Rnahybrid
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
597399931GWAS1496005_Hrheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement QTL GWAS1496005 (human)6e-10rheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement26088169460881695Human
597050386GWAS1146460_HEczematoid dermatitis QTL GWAS1146460 (human)3e-09Eczematoid dermatitis26089583860895839Human
597072947GWAS1169021_Hrheumatoid arthritis QTL GWAS1169021 (human)3e-08rheumatoid arthritis26089771560897716Human
597029010GWAS1125084_Hrheumatoid arthritis QTL GWAS1125084 (human)2e-13rheumatoid arthritis26089771560897716Human
406961993GWAS610969_Hrheumatoid arthritis QTL GWAS610969 (human)4e-16rheumatoid arthritis26089771560897716Human
597070940GWAS1167014_Hrheumatoid arthritis QTL GWAS1167014 (human)0.000004rheumatoid arthritis26089771560897716Human
406961994GWAS610970_Hrheumatoid arthritis QTL GWAS610970 (human)2e-15rheumatoid arthritis26089771560897716Human
597037981GWAS1134055_Hrheumatoid arthritis QTL GWAS1134055 (human)5e-14rheumatoid arthritis26089771560897716Human
597072957GWAS1169031_Hrheumatoid arthritis QTL GWAS1169031 (human)1e-11rheumatoid arthritis26090899460908995Human
597251223GWAS1347297_Hrheumatoid arthritis QTL GWAS1347297 (human)0.0000008rheumatoid arthritis26090899460908995Human
597022630GWAS1118704_Hrheumatoid arthritis QTL GWAS1118704 (human)4e-13rheumatoid arthritis26089771560897716Human
597070949GWAS1167023_Hrheumatoid arthritis QTL GWAS1167023 (human)1e-09rheumatoid arthritis26090899460908995Human
597057410GWAS1153484_HEczematoid dermatitis, allergic rhinitis QTL GWAS1153484 (human)3e-08Eczematoid dermatitis, allergic rhinitis26089160460891605Human

Markers in Region
SHGC-35444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37261,149,684 - 61,149,893UniSTSGRCh37
Build 36261,003,188 - 61,003,397RGDNCBI36
Celera260,993,277 - 60,993,486RGD
Cytogenetic Map2p13-p12UniSTS
HuRef260,891,531 - 60,891,740UniSTS
Stanford-G3 RH Map24042.0UniSTS
GeneMap99-GB4 RH Map2193.88UniSTS
Whitehead-RH Map2259.7UniSTS
NCBI RH Map2349.4UniSTS
GeneMap99-G3 RH Map24454.0UniSTS
RH70902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37261,149,717 - 61,149,867UniSTSGRCh37
Build 36261,003,221 - 61,003,371RGDNCBI36
Celera260,993,310 - 60,993,460RGD
Cytogenetic Map2p13-p12UniSTS
HuRef260,891,564 - 60,891,714UniSTS
GeneMap99-GB4 RH Map2193.88UniSTS
NCBI RH Map2349.4UniSTS
SHGC-80607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37261,109,058 - 61,109,379UniSTSGRCh37
Build 36260,962,562 - 60,962,883RGDNCBI36
Celera260,952,653 - 60,952,974RGD
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2p13-p12UniSTS
HuRef260,850,960 - 60,851,281UniSTS
TNG Radiation Hybrid Map234414.0UniSTS
Rel  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37261,145,534 - 61,145,706UniSTSGRCh37
Build 36260,999,038 - 60,999,210RGDNCBI36
Celera260,989,128 - 60,989,300RGD
HuRef260,887,384 - 60,887,556UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2251 4969 1726 2351 5 624 1951 465 2269 7301 6468 53 3731 1 852 1744 1617 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001291746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA279919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG036646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX111941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN414487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY123671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L41414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X75042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295025   ⟹   ENSP00000295025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl260,881,521 - 60,931,610 (+)Ensembl
Ensembl Acc Id: ENST00000394479   ⟹   ENSP00000377989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl260,881,574 - 60,931,612 (+)Ensembl
Ensembl Acc Id: ENST00000642725   ⟹   ENSP00000496299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl260,894,397 - 60,901,083 (+)Ensembl
Ensembl Acc Id: ENST00000699191   ⟹   ENSP00000514191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl260,881,491 - 60,923,039 (+)Ensembl
Ensembl Acc Id: ENST00000699192   ⟹   ENSP00000514192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl260,881,613 - 60,923,027 (+)Ensembl
Ensembl Acc Id: ENST00000699193   ⟹   ENSP00000514193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl260,881,642 - 60,923,031 (+)Ensembl
Ensembl Acc Id: ENST00000699194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl260,891,722 - 60,921,175 (+)Ensembl
Ensembl Acc Id: ENST00000699195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl260,917,186 - 60,921,175 (+)Ensembl
RefSeq Acc Id: NM_001291746   ⟹   NP_001278675
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38260,881,574 - 60,931,612 (+)NCBI
CHM1_1261,039,031 - 61,085,699 (+)NCBI
T2T-CHM13v2.0260,887,420 - 60,937,448 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002908   ⟹   NP_002899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38260,881,574 - 60,931,612 (+)NCBI
GRCh37261,108,709 - 61,171,410 (+)NCBI
Build 36260,962,256 - 61,003,682 (+)NCBI Archive
HuRef260,850,654 - 60,892,025 (+)ENTREZGENE
CHM1_1261,039,031 - 61,085,699 (+)NCBI
T2T-CHM13v2.0260,887,420 - 60,937,448 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533010   ⟹   XP_011531312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38260,900,744 - 60,931,612 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004627   ⟹   XP_016860116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38260,881,574 - 60,931,612 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054343267   ⟹   XP_054199242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0260,887,420 - 60,937,448 (+)NCBI
RefSeq Acc Id: XM_054343268   ⟹   XP_054199243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0260,906,592 - 60,937,448 (+)NCBI
RefSeq Acc Id: NP_002899   ⟸   NM_002908
- Peptide Label: isoform 1
- UniProtKB: Q2PNZ7 (UniProtKB/Swiss-Prot),   Q17RU2 (UniProtKB/Swiss-Prot),   Q6LDY0 (UniProtKB/Swiss-Prot),   Q04864 (UniProtKB/Swiss-Prot),   B4E1P2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278675   ⟸   NM_001291746
- Peptide Label: isoform 2
- UniProtKB: B4E1P2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531312   ⟸   XM_011533010
- Peptide Label: isoform X2
- UniProtKB: B4E1P2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860116   ⟸   XM_017004627
- Peptide Label: isoform X1
- UniProtKB: A0A8V8TPL7 (UniProtKB/TrEMBL),   A0A8V8TMU9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000295025   ⟸   ENST00000295025
Ensembl Acc Id: ENSP00000496299   ⟸   ENST00000642725
Ensembl Acc Id: ENSP00000377989   ⟸   ENST00000394479
Ensembl Acc Id: ENSP00000514192   ⟸   ENST00000699192
Ensembl Acc Id: ENSP00000514191   ⟸   ENST00000699191
Ensembl Acc Id: ENSP00000514193   ⟸   ENST00000699193
RefSeq Acc Id: XP_054199242   ⟸   XM_054343267
- Peptide Label: isoform X1
- UniProtKB: A0A8V8TMU9 (UniProtKB/TrEMBL),   A0A8V8TPL7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199243   ⟸   XM_054343268
- Peptide Label: isoform X2
- UniProtKB: B4E1P2 (UniProtKB/TrEMBL)
Protein Domains
RHD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q04864-F1-model_v2 AlphaFold Q04864 1-619 view protein structure

Promoters
RGD ID:6860388
Promoter ID:EPDNEW_H3359
Type:initiation region
Name:REL_1
Description:REL proto-oncogene, NF-kB subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38260,881,574 - 60,881,634EPDNEW
RGD ID:6798098
Promoter ID:HG_KWN:32780
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394479,   OTTHUMT00000251576,   OTTHUMT00000325348,   OTTHUMT00000325763
Position:
Human AssemblyChrPosition (strand)Source
Build 36260,961,576 - 60,962,287 (+)MPROMDB
RGD ID:6811947
Promoter ID:HG_ACW:44275
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:REL.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36260,972,191 - 60,972,691 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9954 AgrOrtholog
COSMIC REL COSMIC
Ensembl Genes ENSG00000162924 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295025 ENTREZGENE
  ENST00000295025.12 UniProtKB/Swiss-Prot
  ENST00000394479 ENTREZGENE
  ENST00000394479.4 UniProtKB/Swiss-Prot
  ENST00000699191 ENTREZGENE
  ENST00000699191.1 UniProtKB/TrEMBL
  ENST00000699192.1 UniProtKB/TrEMBL
  ENST00000699193.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  2.60.40.340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immunoglobulins UniProtKB/TrEMBL
GTEx ENSG00000162924 GTEx
HGNC ID HGNC:9954 ENTREZGENE
Human Proteome Map REL Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPT_NFkappaB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NFkB/Dor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD-n_c-Rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_DNA_bind_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_DNA_bind_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5966 UniProtKB/Swiss-Prot
NCBI Gene 5966 ENTREZGENE
OMIM 164910 OMIM
PANTHER PTHR24169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24169:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RHD_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_DNA_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34321 PharmGKB
PRINTS F138DOMAIN UniProtKB/Swiss-Prot
  NFKBTNSCPFCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE REL_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  REL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP E set domains UniProtKB/TrEMBL
  SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot
UniProt A0A8V8TMU9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TMW2_HUMAN UniProtKB/TrEMBL
  A0A8V8TPL7 ENTREZGENE, UniProtKB/TrEMBL
  B4E1P2 ENTREZGENE, UniProtKB/TrEMBL
  Q04864 ENTREZGENE
  Q17RU2 ENTREZGENE
  Q2PNZ7 ENTREZGENE
  Q6LDY0 ENTREZGENE
  REL_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q17RU2 UniProtKB/Swiss-Prot
  Q2PNZ7 UniProtKB/Swiss-Prot
  Q6LDY0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 REL  REL proto-oncogene, NF-kB subunit  REL  v-rel avian reticuloendotheliosis viral oncogene homolog  Symbol and/or name change 5135510 APPROVED
2013-07-16 REL  v-rel avian reticuloendotheliosis viral oncogene homolog  REL  v-rel reticuloendotheliosis viral oncogene homolog (avian)  Symbol and/or name change 5135510 APPROVED