ATG2B (autophagy related 2B) - Rat Genome Database

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Gene: ATG2B (autophagy related 2B) Homo sapiens
Analyze
Symbol: ATG2B
Name: autophagy related 2B
RGD ID: 1312572
HGNC Page HGNC:20187
Description: Enables lipid transfer activity. Predicted to be involved in autophagy of mitochondrion and macroautophagy. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATG2 autophagy related 2 homolog B; autophagy-related protein 2 homolog B; BLTP4B; bridge-like lipid transfer protein family member 4B; C14orf103; FLJ10242
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
GRCh381496,279,195 - 96,363,341 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1496,279,195 - 96,363,341 (-)EnsemblGRCh38hg38GRCh38
GRCh371496,745,532 - 96,829,678 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361495,817,348 - 95,899,431 (-)NCBINCBI36Build 36hg18NCBI36
Build 341495,820,836 - 95,853,254NCBI
Celera1476,803,312 - 76,885,404 (-)NCBICelera
Cytogenetic Map14q32.2NCBI
HuRef1476,932,696 - 77,014,765 (-)NCBIHuRef
CHM1_11496,686,513 - 96,768,523 (-)NCBICHM1_1
T2T-CHM13v2.01490,510,437 - 90,594,937 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12508121   PMID:14702039   PMID:15028280   PMID:15489334   PMID:19197948   PMID:20562859   PMID:21873635   PMID:22219374   PMID:22350415   PMID:23752268   PMID:25281560  
PMID:25322940   PMID:25798074   PMID:25921289   PMID:26186194   PMID:26280900   PMID:26496610   PMID:26638075   PMID:26972000   PMID:27173435   PMID:27265029   PMID:27432908   PMID:27960588  
PMID:28514442   PMID:28800131   PMID:29507755   PMID:29562274   PMID:29568061   PMID:30021884   PMID:30194290   PMID:30340022   PMID:31091453   PMID:31519766   PMID:31721365   PMID:31723608  
PMID:32009292   PMID:32335541   PMID:32407879   PMID:32423001   PMID:32726125   PMID:32877691   PMID:33001583   PMID:33024031   PMID:33130456   PMID:33250346   PMID:33397691   PMID:33417976  
PMID:33499712   PMID:33554699   PMID:33760149   PMID:33824300   PMID:33916271   PMID:33961781   PMID:34011540   PMID:34048709   PMID:34079125   PMID:34172895   PMID:34320900   PMID:34432599  
PMID:34524948   PMID:34695177   PMID:34709266   PMID:34748402   PMID:35013218   PMID:35271311   PMID:35439318   PMID:35563538   PMID:35902797   PMID:35973513   PMID:36114006   PMID:36538041  
PMID:36779422   PMID:36966971   PMID:37689310   PMID:37774976   PMID:37827155   PMID:38280479   PMID:38866787   PMID:39231216   PMID:39774270  


Genomics

Comparative Map Data
ATG2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381496,279,195 - 96,363,341 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1496,279,195 - 96,363,341 (-)EnsemblGRCh38hg38GRCh38
GRCh371496,745,532 - 96,829,678 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361495,817,348 - 95,899,431 (-)NCBINCBI36Build 36hg18NCBI36
Build 341495,820,836 - 95,853,254NCBI
Celera1476,803,312 - 76,885,404 (-)NCBICelera
Cytogenetic Map14q32.2NCBI
HuRef1476,932,696 - 77,014,765 (-)NCBIHuRef
CHM1_11496,686,513 - 96,768,523 (-)NCBICHM1_1
T2T-CHM13v2.01490,510,437 - 90,594,937 (-)NCBIT2T-CHM13v2.0
Atg2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912105,579,798 - 105,651,554 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12105,582,395 - 105,651,470 (-)EnsemblGRCm39 Ensembl
GRCm3812105,613,539 - 105,685,297 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12105,616,136 - 105,685,211 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712106,851,749 - 106,923,451 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612106,017,186 - 106,047,879 (-)NCBIMGSCv36mm8
Celera12106,848,151 - 106,919,764 (-)NCBICelera
Cytogenetic Map12ENCBI
cM Map1255.82NCBI
Atg2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86130,286,979 - 130,357,109 (-)NCBIGRCr8
mRatBN7.26124,522,283 - 124,592,412 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6124,525,523 - 124,592,015 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.06129,449,451 - 129,519,599 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6129,449,449 - 129,509,720 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06138,642,749 - 138,712,529 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46129,773,507 - 129,841,598 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16129,778,695 - 129,803,238 (-)NCBI
Celera6122,089,232 - 122,159,479 (-)NCBICelera
Cytogenetic Map6q32NCBI
Atg2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543818,078,685 - 18,153,098 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543818,080,641 - 18,153,490 (-)NCBIChiLan1.0ChiLan1.0
ATG2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21597,441,258 - 97,523,352 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11496,657,763 - 96,739,856 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01476,910,943 - 76,992,969 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11496,233,322 - 96,314,881 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1496,237,825 - 96,314,881 (-)Ensemblpanpan1.1panPan2
ATG2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1865,039,960 - 65,110,811 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl865,044,194 - 65,110,796 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha864,555,847 - 64,626,693 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0865,311,353 - 65,382,558 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl865,314,912 - 65,382,482 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1864,984,413 - 65,055,244 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0865,045,745 - 65,116,666 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0865,369,420 - 65,440,283 (-)NCBIUU_Cfam_GSD_1.0
Atg2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086409,441,264 - 9,502,872 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936604584,480 - 641,183 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936604583,391 - 641,217 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATG2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7117,506,302 - 117,586,545 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17117,506,298 - 117,586,651 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27124,763,437 - 124,844,551 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATG2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12474,163,750 - 74,246,131 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2474,163,442 - 74,246,116 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605361,314,998 - 61,397,385 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atg2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247347,015,672 - 7,096,348 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247347,015,356 - 7,097,392 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATG2B
267 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3 copy number gain See cases [RCV000052089] Chr14:95787358..96453757 [GRCh38]
Chr14:96253695..96920094 [GRCh37]
Chr14:95323448..95989847 [NCBI36]
Chr14:14q32.13-32.2		 uncertain significance
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
NM_018036.5(ATG2B):c.5907C>T (p.Ile1969=) single nucleotide variant Malignant melanoma [RCV000070679] Chr14:96289755 [GRCh38]
Chr14:96756092 [GRCh37]
Chr14:95825845 [NCBI36]
Chr14:14q32.2		 not provided
NM_018036.5(ATG2B):c.4506G>C (p.Gln1502His) single nucleotide variant Malignant melanoma [RCV000070680] Chr14:96306714 [GRCh38]
Chr14:96773051 [GRCh37]
Chr14:95842804 [NCBI36]
Chr14:14q32.2		 not provided
NM_018036.5(ATG2B):c.1284C>T (p.Pro428=) single nucleotide variant Malignant melanoma [RCV000062829] Chr14:96332579 [GRCh38]
Chr14:96798916 [GRCh37]
Chr14:95868669 [NCBI36]
Chr14:14q32.2		 not provided
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
NC_000014.9:g.95696766_96390792dup duplication Acute myeloid leukemia [RCV000190405]|Primary myelofibrosis [RCV000190404]|Thrombocythemia 1 [RCV000190403]|Thrombocythemia 1 [RCV000190406] Chr14:95696766..96390792 [GRCh38]
Chr14:96163103..96857129 [GRCh37]
Chr14:14q32.13-32.2		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_018036.7(ATG2B):c.3948G>T (p.Glu1316Asp) single nucleotide variant not specified [RCV004317888] Chr14:96311584 [GRCh38]
Chr14:96777921 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5212C>T (p.Pro1738Ser) single nucleotide variant not specified [RCV004321608] Chr14:96295488 [GRCh38]
Chr14:96761825 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q32.2(chr14:96641506-97154180)x3 copy number gain not provided [RCV000683609] Chr14:96641506..97154180 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_018036.7(ATG2B):c.5219-10A>T single nucleotide variant not provided [RCV001541579] Chr14:96295177 [GRCh38]
Chr14:96761514 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5103A>C (p.Arg1701Ser) single nucleotide variant ATG2B-related disorder [RCV003976006]|not provided [RCV001691162] Chr14:96302043 [GRCh38]
Chr14:96768380 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5140-40T>C single nucleotide variant not provided [RCV001689543] Chr14:96295600 [GRCh38]
Chr14:96761937 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4304-136G>A single nucleotide variant not provided [RCV001609621] Chr14:96307052 [GRCh38]
Chr14:96773389 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4162-77T>C single nucleotide variant not provided [RCV001708777] Chr14:96309671 [GRCh38]
Chr14:96776008 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3642+173C>A single nucleotide variant not provided [RCV001678997] Chr14:96314981 [GRCh38]
Chr14:96781318 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.384A>G (p.Ala128=) single nucleotide variant not provided [RCV001708038] Chr14:96345327 [GRCh38]
Chr14:96811664 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4393T>C (p.Ser1465Pro) single nucleotide variant not provided [RCV001709473] Chr14:96306827 [GRCh38]
Chr14:96773164 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3643-123T>C single nucleotide variant not provided [RCV001649307] Chr14:96313558 [GRCh38]
Chr14:96779895 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4506+124_4506+125del deletion not provided [RCV001641129] Chr14:96306589..96306590 [GRCh38]
Chr14:96772926..96772927 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3210+18G>A single nucleotide variant not provided [RCV001642132] Chr14:96317127 [GRCh38]
Chr14:96783464 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1360G>A (p.Val454Met) single nucleotide variant not provided [RCV000959175]|not specified [RCV001819021] Chr14:96332503 [GRCh38]
Chr14:96798840 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5139+9C>T single nucleotide variant ATG2B-related disorder [RCV003936126]|not provided [RCV000971611]|not specified [RCV003151251] Chr14:96301998 [GRCh38]
Chr14:96768335 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4899C>T (p.Leu1633=) single nucleotide variant ATG2B-related disorder [RCV003936127]|not provided [RCV000971612]|not specified [RCV003151252] Chr14:96303199 [GRCh38]
Chr14:96769536 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.462T>C (p.Ala154=) single nucleotide variant ATG2B-related disorder [RCV003928515]|not provided [RCV000971613]|not specified [RCV003151253] Chr14:96345249 [GRCh38]
Chr14:96811586 [GRCh37]
Chr14:14q32.2		 benign
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
NM_018036.7(ATG2B):c.1759T>C (p.Tyr587His) single nucleotide variant not provided [RCV000965280] Chr14:96329606 [GRCh38]
Chr14:96795943 [GRCh37]
Chr14:14q32.2		 benign
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_018036.7(ATG2B):c.3643-247dup duplication not provided [RCV001643846] Chr14:96313681..96313682 [GRCh38]
Chr14:96780018..96780019 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5702-46A>G single nucleotide variant not provided [RCV001659654] Chr14:96290636 [GRCh38]
Chr14:96756973 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4147C>G (p.Gln1383Glu) single nucleotide variant not provided [RCV001681016] Chr14:96311131 [GRCh38]
Chr14:96777468 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1731-26C>G single nucleotide variant not provided [RCV001657438] Chr14:96329660 [GRCh38]
Chr14:96795997 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3643-274T>C single nucleotide variant not provided [RCV001645875] Chr14:96313709 [GRCh38]
Chr14:96780046 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5037+18C>T single nucleotide variant not provided [RCV001685254] Chr14:96303043 [GRCh38]
Chr14:96769380 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.2438-11dup duplication not provided [RCV001676786] Chr14:96324000..96324001 [GRCh38]
Chr14:96790337..96790338 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.6006+184T>C single nucleotide variant not provided [RCV001614441] Chr14:96289472 [GRCh38]
Chr14:96755809 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5857-183T>A single nucleotide variant not provided [RCV001614727] Chr14:96289988 [GRCh38]
Chr14:96756325 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5905A>G (p.Ile1969Val) single nucleotide variant not provided [RCV000910566] Chr14:96289757 [GRCh38]
Chr14:96756094 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4869G>A (p.Pro1623=) single nucleotide variant not provided [RCV000955206] Chr14:96303229 [GRCh38]
Chr14:96769566 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1430C>T (p.Pro477Leu) single nucleotide variant not provided [RCV000972887] Chr14:96332343 [GRCh38]
Chr14:96798680 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1436A>G (p.Asn479Ser) single nucleotide variant ATG2B-related disorder [RCV003913267]|not provided [RCV000948939] Chr14:96332337 [GRCh38]
Chr14:96798674 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3387G>A (p.Pro1129=) single nucleotide variant not provided [RCV000912310] Chr14:96315558 [GRCh38]
Chr14:96781895 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.3362-4C>G single nucleotide variant ATG2B-related disorder [RCV003935874]|not provided [RCV000957241] Chr14:96315587 [GRCh38]
Chr14:96781924 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.2988T>C (p.Asn996=) single nucleotide variant not provided [RCV000957242] Chr14:96317747 [GRCh38]
Chr14:96784084 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.326-121T>C single nucleotide variant not provided [RCV001595873] Chr14:96345506 [GRCh38]
Chr14:96811843 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5038-306T>A single nucleotide variant not provided [RCV001658507] Chr14:96302414 [GRCh38]
Chr14:96768751 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4506+125del deletion not provided [RCV001656531] Chr14:96306589 [GRCh38]
Chr14:96772926 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1730+240A>G single nucleotide variant not provided [RCV001541344] Chr14:96331136 [GRCh38]
Chr14:96797473 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3913+177A>G single nucleotide variant not provided [RCV001651567] Chr14:96311912 [GRCh38]
Chr14:96778249 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3643-93G>A single nucleotide variant not provided [RCV001687719] Chr14:96313528 [GRCh38]
Chr14:96779865 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4843-9C>T single nucleotide variant not provided [RCV001720870] Chr14:96303264 [GRCh38]
Chr14:96769601 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4304-184_4304-183del microsatellite not provided [RCV001597747] Chr14:96307099..96307100 [GRCh38]
Chr14:96773436..96773437 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1731-187A>C single nucleotide variant not provided [RCV001675285] Chr14:96329821 [GRCh38]
Chr14:96796158 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4161+46A>G single nucleotide variant not provided [RCV001676381] Chr14:96311071 [GRCh38]
Chr14:96777408 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.6007-262C>T single nucleotide variant not provided [RCV001688998] Chr14:96286247 [GRCh38]
Chr14:96752584 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1468+77dup duplication not provided [RCV001641534] Chr14:96332214..96332215 [GRCh38]
Chr14:96798551..96798552 [GRCh37]
Chr14:14q32.2		 benign
NC_000014.9:g.96363661G>A single nucleotide variant not provided [RCV001688228] Chr14:96363661 [GRCh38]
Chr14:96829998 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3210+66C>T single nucleotide variant not provided [RCV001641844] Chr14:96317079 [GRCh38]
Chr14:96783416 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3913+213A>G single nucleotide variant not provided [RCV001649219] Chr14:96311876 [GRCh38]
Chr14:96778213 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1719C>T (p.His573=) single nucleotide variant not provided [RCV001656277] Chr14:96331387 [GRCh38]
Chr14:96797724 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3210+174C>T single nucleotide variant not provided [RCV001682218] Chr14:96316971 [GRCh38]
Chr14:96783308 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1730+212A>G single nucleotide variant not provided [RCV001714755] Chr14:96331164 [GRCh38]
Chr14:96797501 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.6006+274C>T single nucleotide variant not provided [RCV001686161] Chr14:96289382 [GRCh38]
Chr14:96755719 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5139+28G>A single nucleotide variant not provided [RCV001661257] Chr14:96301979 [GRCh38]
Chr14:96768316 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.2880-28A>G single nucleotide variant not provided [RCV001715836] Chr14:96317883 [GRCh38]
Chr14:96784220 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.479-238T>C single nucleotide variant not provided [RCV001635898] Chr14:96344994 [GRCh38]
Chr14:96811331 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4506+46dup duplication not provided [RCV001678089] Chr14:96306667..96306668 [GRCh38]
Chr14:96773004..96773005 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3370A>G (p.Asn1124Asp) single nucleotide variant not provided [RCV001638579] Chr14:96315575 [GRCh38]
Chr14:96781912 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5038-78dup duplication not provided [RCV001708335] Chr14:96302177..96302178 [GRCh38]
Chr14:96768514..96768515 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3914-140A>C single nucleotide variant not provided [RCV001709387] Chr14:96311758 [GRCh38]
Chr14:96778095 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4506+144G>T single nucleotide variant not provided [RCV001652672] Chr14:96306570 [GRCh38]
Chr14:96772907 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4734-14_4734-13del deletion not provided [RCV001679855] Chr14:96304616..96304617 [GRCh38]
Chr14:96770953..96770954 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5497-141G>A single nucleotide variant not provided [RCV001647994] Chr14:96291823 [GRCh38]
Chr14:96758160 [GRCh37]
Chr14:14q32.2		 benign
GRCh37/hg19 14q32.2(chr14:96509822-96832238)x3 copy number gain not provided [RCV001006653] Chr14:96509822..96832238 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5427-230C>T single nucleotide variant not provided [RCV001672079] Chr14:96292328 [GRCh38]
Chr14:96758665 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4507-178T>G single nucleotide variant not provided [RCV001533888] Chr14:96305993 [GRCh38]
Chr14:96772330 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.6007-233G>A single nucleotide variant not provided [RCV001693989] Chr14:96286218 [GRCh38]
Chr14:96752555 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5580-89A>T single nucleotide variant not provided [RCV001696339] Chr14:96291024 [GRCh38]
Chr14:96757361 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.163-25T>A single nucleotide variant not provided [RCV001609357] Chr14:96347366 [GRCh38]
Chr14:96813703 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4506+109G>A single nucleotide variant not provided [RCV001707432] Chr14:96306605 [GRCh38]
Chr14:96772942 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.-40C>T single nucleotide variant not provided [RCV001694493] Chr14:96363016 [GRCh38]
Chr14:96829353 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.24C>T (p.Ser8=) single nucleotide variant not provided [RCV001692621] Chr14:96362953 [GRCh38]
Chr14:96829290 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4506+179_4506+180insCTC insertion not provided [RCV001682248] Chr14:96306534..96306535 [GRCh38]
Chr14:96772871..96772872 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4842+112A>C single nucleotide variant not provided [RCV001695807] Chr14:96304383 [GRCh38]
Chr14:96770720 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1576C>G (p.Pro526Ala) single nucleotide variant not provided [RCV001536632] Chr14:96331530 [GRCh38]
Chr14:96797867 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4734-26dup duplication not provided [RCV001709013] Chr14:96304615..96304616 [GRCh38]
Chr14:96770952..96770953 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1021+155G>T single nucleotide variant not provided [RCV001614623] Chr14:96334250 [GRCh38]
Chr14:96800587 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4303+177C>A single nucleotide variant not provided [RCV001538763] Chr14:96309276 [GRCh38]
Chr14:96775613 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.-242C>G single nucleotide variant not provided [RCV001692893] Chr14:96363218 [GRCh38]
Chr14:96829555 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5058C>T (p.His1686=) single nucleotide variant not provided [RCV001653349] Chr14:96302088 [GRCh38]
Chr14:96768425 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3361+262A>G single nucleotide variant not provided [RCV001670783] Chr14:96316271 [GRCh38]
Chr14:96782608 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5219-53T>G single nucleotide variant not provided [RCV001710078] Chr14:96295220 [GRCh38]
Chr14:96761557 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4734-190G>A single nucleotide variant not provided [RCV001691468] Chr14:96304793 [GRCh38]
Chr14:96771130 [GRCh37]
Chr14:14q32.2		 benign
NC_000014.9:g.96363513G>T single nucleotide variant not provided [RCV001682101] Chr14:96363513 [GRCh38]
Chr14:96829850 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.163-39G>C single nucleotide variant not provided [RCV001654732] Chr14:96347380 [GRCh38]
Chr14:96813717 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.479-41A>G single nucleotide variant not provided [RCV001617614] Chr14:96344797 [GRCh38]
Chr14:96811134 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3642+237G>A single nucleotide variant not provided [RCV001616390] Chr14:96314917 [GRCh38]
Chr14:96781254 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.2164-317C>G single nucleotide variant not provided [RCV001617806] Chr14:96326239 [GRCh38]
Chr14:96792576 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5038-228G>A single nucleotide variant not provided [RCV001674005] Chr14:96302336 [GRCh38]
Chr14:96768673 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.3038-73T>A single nucleotide variant not provided [RCV001652491] Chr14:96317390 [GRCh38]
Chr14:96783727 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.2540+143G>A single nucleotide variant not provided [RCV001654964] Chr14:96323753 [GRCh38]
Chr14:96790090 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5426+211C>G single nucleotide variant not provided [RCV001654980] Chr14:96294749 [GRCh38]
Chr14:96761086 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5037+165T>C single nucleotide variant not provided [RCV001673271] Chr14:96302896 [GRCh38]
Chr14:96769233 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.1205G>A (p.Arg402His) single nucleotide variant ATG2B-related disorder [RCV003941155]|not specified [RCV001819539] Chr14:96333690 [GRCh38]
Chr14:96800027 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.669C>T (p.Leu223=) single nucleotide variant ATG2B-related disorder [RCV003976216]|not provided [RCV004706251]|not specified [RCV001822269] Chr14:96343194 [GRCh38]
Chr14:96809531 [GRCh37]
Chr14:14q32.2		 benign|likely benign
NM_018036.7(ATG2B):c.2437+6A>G single nucleotide variant not specified [RCV001822530] Chr14:96325643 [GRCh38]
Chr14:96791980 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4362_4363delinsGT (p.Phe1454_Pro1455delinsLeuSer) indel not specified [RCV001822571] Chr14:96306857..96306858 [GRCh38]
Chr14:96773194..96773195 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4568A>G (p.Asn1523Ser) single nucleotide variant not specified [RCV001822582] Chr14:96305754 [GRCh38]
Chr14:96772091 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.3849C>T (p.Ile1283=) single nucleotide variant not specified [RCV001822735] Chr14:96312153 [GRCh38]
Chr14:96778490 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4766C>A (p.Thr1589Lys) single nucleotide variant not specified [RCV001822798] Chr14:96304571 [GRCh38]
Chr14:96770908 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4600A>T (p.Thr1534Ser) single nucleotide variant not provided [RCV004706255]|not specified [RCV001819533] Chr14:96305722 [GRCh38]
Chr14:96772059 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.653A>G (p.His218Arg) single nucleotide variant ATG2B-related disorder [RCV003948742]|not specified [RCV001819542] Chr14:96343210 [GRCh38]
Chr14:96809547 [GRCh37]
Chr14:14q32.2		 likely benign|uncertain significance
NM_018036.7(ATG2B):c.6168C>T (p.Gly2056=) single nucleotide variant ATG2B-related disorder [RCV003941163]|not provided [RCV004706256]|not specified [RCV001820721] Chr14:96285824 [GRCh38]
Chr14:96752161 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.1668A>G (p.Ser556=) single nucleotide variant not provided [RCV004706252]|not specified [RCV001822287] Chr14:96331438 [GRCh38]
Chr14:96797775 [GRCh37]
Chr14:14q32.2		 benign|likely benign
NM_018036.7(ATG2B):c.4368C>T (p.Asp1456=) single nucleotide variant not specified [RCV001822379] Chr14:96306852 [GRCh38]
Chr14:96773189 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.5278A>G (p.Lys1760Glu) single nucleotide variant not specified [RCV001822431] Chr14:96295108 [GRCh38]
Chr14:96761445 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.2908C>T (p.Pro970Ser) single nucleotide variant ATG2B-related disorder [RCV003956406]|not specified [RCV001822434] Chr14:96317827 [GRCh38]
Chr14:96784164 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.3210+8T>C single nucleotide variant not specified [RCV001822524] Chr14:96317137 [GRCh38]
Chr14:96783474 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4596C>T (p.Thr1532=) single nucleotide variant not specified [RCV001822583] Chr14:96305726 [GRCh38]
Chr14:96772063 [GRCh37]
Chr14:14q32.2		 likely benign
GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1 copy number loss not provided [RCV001827727] Chr14:95871795..102457523 [GRCh37]
Chr14:14q32.13-32.31		 pathogenic
NC_000014.8:g.(?_90429459)_(97347545_?)dup duplication not provided [RCV003109490] Chr14:90429459..97347545 [GRCh37]
Chr14:14q32.11-32.2		 uncertain significance
NC_000014.8:g.(?_95080779)_(97347545_?)dup duplication not provided [RCV003113847] Chr14:95080779..97347545 [GRCh37]
Chr14:14q32.13-32.2		 uncertain significance
NM_018036.7(ATG2B):c.3416G>A (p.Arg1139His) single nucleotide variant not specified [RCV004298730] Chr14:96315529 [GRCh38]
Chr14:96781866 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3782C>T (p.Thr1261Ile) single nucleotide variant not specified [RCV003151640] Chr14:96313125 [GRCh38]
Chr14:96779462 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.3913+6A>T single nucleotide variant not specified [RCV003151646] Chr14:96312083 [GRCh38]
Chr14:96778420 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.5805G>A (p.Ser1935=) single nucleotide variant not specified [RCV003151648] Chr14:96290487 [GRCh38]
Chr14:96756824 [GRCh37]
Chr14:14q32.2		 likely benign
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_018036.7(ATG2B):c.475A>G (p.Thr159Ala) single nucleotide variant not specified [RCV004309366] Chr14:96345236 [GRCh38]
Chr14:96811573 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.714A>G (p.Lys238=) single nucleotide variant not specified [RCV003151654] Chr14:96343149 [GRCh38]
Chr14:96809486 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.4443G>T (p.Met1481Ile) single nucleotide variant not specified [RCV004314094] Chr14:96306777 [GRCh38]
Chr14:96773114 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
NM_018036.7(ATG2B):c.250G>T (p.Gly84Cys) single nucleotide variant not specified [RCV004159752] Chr14:96347254 [GRCh38]
Chr14:96813591 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 copy number gain not provided [RCV002472541] Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2		 likely pathogenic
NM_018036.7(ATG2B):c.4605C>G (p.Ser1535Arg) single nucleotide variant not specified [RCV004183278] Chr14:96305717 [GRCh38]
Chr14:96772054 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1864C>T (p.Pro622Ser) single nucleotide variant not specified [RCV004206563] Chr14:96329501 [GRCh38]
Chr14:96795838 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1760A>G (p.Tyr587Cys) single nucleotide variant not specified [RCV004145304] Chr14:96329605 [GRCh38]
Chr14:96795942 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.6029C>G (p.Thr2010Ser) single nucleotide variant not specified [RCV004141429] Chr14:96285963 [GRCh38]
Chr14:96752300 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5059G>A (p.Val1687Met) single nucleotide variant not specified [RCV004205660] Chr14:96302087 [GRCh38]
Chr14:96768424 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3577G>A (p.Val1193Ile) single nucleotide variant not specified [RCV004138743] Chr14:96315219 [GRCh38]
Chr14:96781556 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2948C>T (p.Ser983Phe) single nucleotide variant not specified [RCV004222171] Chr14:96317787 [GRCh38]
Chr14:96784124 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5932C>T (p.Pro1978Ser) single nucleotide variant not specified [RCV004231114] Chr14:96289730 [GRCh38]
Chr14:96756067 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.6098G>A (p.Arg2033His) single nucleotide variant not specified [RCV004127843] Chr14:96285894 [GRCh38]
Chr14:96752231 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3560A>C (p.Lys1187Thr) single nucleotide variant not specified [RCV004105672] Chr14:96315385 [GRCh38]
Chr14:96781722 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5683C>T (p.His1895Tyr) single nucleotide variant not specified [RCV004147839] Chr14:96290832 [GRCh38]
Chr14:96757169 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4811A>G (p.His1604Arg) single nucleotide variant not specified [RCV004082858] Chr14:96304526 [GRCh38]
Chr14:96770863 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.873G>T (p.Arg291Ser) single nucleotide variant not specified [RCV004152468] Chr14:96341573 [GRCh38]
Chr14:96807910 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4400C>G (p.Pro1467Arg) single nucleotide variant not specified [RCV004161291] Chr14:96306820 [GRCh38]
Chr14:96773157 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5558A>G (p.Lys1853Arg) single nucleotide variant not specified [RCV004186671] Chr14:96291621 [GRCh38]
Chr14:96757958 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3838C>T (p.Leu1280Phe) single nucleotide variant not specified [RCV004085403] Chr14:96313069 [GRCh38]
Chr14:96779406 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2366T>A (p.Phe789Tyr) single nucleotide variant not specified [RCV004179718] Chr14:96325720 [GRCh38]
Chr14:96792057 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3439A>G (p.Ile1147Val) single nucleotide variant not specified [RCV004143565] Chr14:96315506 [GRCh38]
Chr14:96781843 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.6157G>A (p.Val2053Met) single nucleotide variant not specified [RCV004143184] Chr14:96285835 [GRCh38]
Chr14:96752172 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4777C>T (p.Arg1593Cys) single nucleotide variant not specified [RCV004195437] Chr14:96304560 [GRCh38]
Chr14:96770897 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3069G>C (p.Leu1023Phe) single nucleotide variant not specified [RCV004242740] Chr14:96317286 [GRCh38]
Chr14:96783623 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3482A>G (p.Asp1161Gly) single nucleotide variant not specified [RCV004203871] Chr14:96315463 [GRCh38]
Chr14:96781800 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4748C>T (p.Ser1583Leu) single nucleotide variant not specified [RCV004140297] Chr14:96304589 [GRCh38]
Chr14:96770926 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.6205G>A (p.Glu2069Lys) single nucleotide variant not specified [RCV004122941] Chr14:96285787 [GRCh38]
Chr14:96752124 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2128C>T (p.His710Tyr) single nucleotide variant not specified [RCV004134032] Chr14:96328382 [GRCh38]
Chr14:96794719 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.190G>A (p.Asp64Asn) single nucleotide variant not specified [RCV004126303] Chr14:96347314 [GRCh38]
Chr14:96813651 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1327A>G (p.Asn443Asp) single nucleotide variant not specified [RCV004190844] Chr14:96332536 [GRCh38]
Chr14:96798873 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5590G>A (p.Val1864Ile) single nucleotide variant not specified [RCV004209800] Chr14:96290925 [GRCh38]
Chr14:96757262 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2195A>T (p.Asp732Val) single nucleotide variant not specified [RCV004125829] Chr14:96325891 [GRCh38]
Chr14:96792228 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3100C>T (p.Arg1034Cys) single nucleotide variant not specified [RCV004240516] Chr14:96317255 [GRCh38]
Chr14:96783592 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3416G>C (p.Arg1139Pro) single nucleotide variant not specified [RCV004135145] Chr14:96315529 [GRCh38]
Chr14:96781866 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3620C>T (p.Ser1207Phe) single nucleotide variant not provided [RCV003456566]|not specified [RCV004216931] Chr14:96315176 [GRCh38]
Chr14:96781513 [GRCh37]
Chr14:14q32.2		 likely benign|uncertain significance
NM_018036.7(ATG2B):c.3035A>G (p.Tyr1012Cys) single nucleotide variant not specified [RCV004112329] Chr14:96317700 [GRCh38]
Chr14:96784037 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4706C>T (p.Pro1569Leu) single nucleotide variant not specified [RCV004188706] Chr14:96305616 [GRCh38]
Chr14:96771953 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5531A>G (p.Gln1844Arg) single nucleotide variant not specified [RCV004104927] Chr14:96291648 [GRCh38]
Chr14:96757985 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1450A>G (p.Thr484Ala) single nucleotide variant not specified [RCV004108307] Chr14:96332323 [GRCh38]
Chr14:96798660 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.6106C>G (p.Pro2036Ala) single nucleotide variant not specified [RCV004184896] Chr14:96285886 [GRCh38]
Chr14:96752223 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5929T>G (p.Phe1977Val) single nucleotide variant not specified [RCV004169766] Chr14:96289733 [GRCh38]
Chr14:96756070 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1900A>G (p.Lys634Glu) single nucleotide variant not specified [RCV004193550] Chr14:96328748 [GRCh38]
Chr14:96795085 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2243C>T (p.Pro748Leu) single nucleotide variant not specified [RCV004082636] Chr14:96325843 [GRCh38]
Chr14:96792180 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5759G>A (p.Arg1920His) single nucleotide variant not specified [RCV004220988] Chr14:96290533 [GRCh38]
Chr14:96756870 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1613C>T (p.Pro538Leu) single nucleotide variant not specified [RCV004095653] Chr14:96331493 [GRCh38]
Chr14:96797830 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.824C>T (p.Pro275Leu) single nucleotide variant not specified [RCV004257709] Chr14:96341622 [GRCh38]
Chr14:96807959 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.521G>A (p.Arg174Lys) single nucleotide variant not specified [RCV004287236] Chr14:96344714 [GRCh38]
Chr14:96811051 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2153A>G (p.His718Arg) single nucleotide variant not specified [RCV004252379] Chr14:96328357 [GRCh38]
Chr14:96794694 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2294A>G (p.Gln765Arg) single nucleotide variant not specified [RCV004268416] Chr14:96325792 [GRCh38]
Chr14:96792129 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3055G>C (p.Glu1019Gln) single nucleotide variant not specified [RCV004273203] Chr14:96317300 [GRCh38]
Chr14:96783637 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3923G>A (p.Arg1308His) single nucleotide variant not specified [RCV004263307] Chr14:96311609 [GRCh38]
Chr14:96777946 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5441C>T (p.Thr1814Met) single nucleotide variant not specified [RCV004251254] Chr14:96292084 [GRCh38]
Chr14:96758421 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1775G>A (p.Arg592Lys) single nucleotide variant not specified [RCV004300706] Chr14:96329590 [GRCh38]
Chr14:96795927 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2689G>C (p.Ala897Pro) single nucleotide variant not specified [RCV004339351] Chr14:96322587 [GRCh38]
Chr14:96788924 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3064A>G (p.Thr1022Ala) single nucleotide variant not specified [RCV004353179] Chr14:96317291 [GRCh38]
Chr14:96783628 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.953T>C (p.Ile318Thr) single nucleotide variant not specified [RCV004344468] Chr14:96334473 [GRCh38]
Chr14:96800810 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4229G>A (p.Arg1410Gln) single nucleotide variant not specified [RCV004345099] Chr14:96309527 [GRCh38]
Chr14:96775864 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.733A>G (p.Thr245Ala) single nucleotide variant not specified [RCV004340193] Chr14:96343130 [GRCh38]
Chr14:96809467 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1538C>G (p.Thr513Ser) single nucleotide variant not specified [RCV004361074] Chr14:96331568 [GRCh38]
Chr14:96797905 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1691G>A (p.Arg564Gln) single nucleotide variant not specified [RCV004360621] Chr14:96331415 [GRCh38]
Chr14:96797752 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4043C>T (p.Thr1348Met) single nucleotide variant not specified [RCV004357357] Chr14:96311235 [GRCh38]
Chr14:96777572 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5984A>G (p.Lys1995Arg) single nucleotide variant not specified [RCV004352490] Chr14:96289678 [GRCh38]
Chr14:96756015 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4630C>T (p.Pro1544Ser) single nucleotide variant not specified [RCV004350482] Chr14:96305692 [GRCh38]
Chr14:96772029 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4036A>G (p.Ile1346Val) single nucleotide variant not specified [RCV004352251] Chr14:96311242 [GRCh38]
Chr14:96777579 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.5051C>G (p.Ala1684Gly) single nucleotide variant not specified [RCV004361212] Chr14:96302095 [GRCh38]
Chr14:96768432 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4163T>C (p.Val1388Ala) single nucleotide variant not specified [RCV004361159] Chr14:96309593 [GRCh38]
Chr14:96775930 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5033A>G (p.Asn1678Ser) single nucleotide variant not specified [RCV004341469] Chr14:96303065 [GRCh38]
Chr14:96769402 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5264A>G (p.His1755Arg) single nucleotide variant not specified [RCV004352071] Chr14:96295122 [GRCh38]
Chr14:96761459 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_018036.7(ATG2B):c.4584C>T (p.Pro1528=) single nucleotide variant not provided [RCV003393594] Chr14:96305738 [GRCh38]
Chr14:96772075 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.3266A>G (p.Asn1089Ser) single nucleotide variant ATG2B-related disorder [RCV003947282] Chr14:96316628 [GRCh38]
Chr14:96782965 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.1171T>C (p.Tyr391His) single nucleotide variant not specified [RCV004423344] Chr14:96333724 [GRCh38]
Chr14:96800061 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1639A>C (p.Ile547Leu) single nucleotide variant not specified [RCV004423348] Chr14:96331467 [GRCh38]
Chr14:96797804 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.170A>G (p.Asn57Ser) single nucleotide variant not specified [RCV004423349] Chr14:96347334 [GRCh38]
Chr14:96813671 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1784C>T (p.Ser595Phe) single nucleotide variant not specified [RCV004423350] Chr14:96329581 [GRCh38]
Chr14:96795918 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3044A>G (p.Glu1015Gly) single nucleotide variant not specified [RCV004423356] Chr14:96317311 [GRCh38]
Chr14:96783648 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3326G>T (p.Cys1109Phe) single nucleotide variant not specified [RCV004423357] Chr14:96316568 [GRCh38]
Chr14:96782905 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3347G>A (p.Ser1116Asn) single nucleotide variant not specified [RCV004423358] Chr14:96316547 [GRCh38]
Chr14:96782884 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3415C>T (p.Arg1139Cys) single nucleotide variant not specified [RCV004423359] Chr14:96315530 [GRCh38]
Chr14:96781867 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3930G>C (p.Met1310Ile) single nucleotide variant not specified [RCV004423361] Chr14:96311602 [GRCh38]
Chr14:96777939 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4058G>A (p.Cys1353Tyr) single nucleotide variant not specified [RCV004423363] Chr14:96311220 [GRCh38]
Chr14:96777557 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4640G>A (p.Arg1547His) single nucleotide variant not specified [RCV004423369] Chr14:96305682 [GRCh38]
Chr14:96772019 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4746T>G (p.Ser1582Arg) single nucleotide variant not specified [RCV004423370] Chr14:96304591 [GRCh38]
Chr14:96770928 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4762C>A (p.Pro1588Thr) single nucleotide variant not specified [RCV004423371] Chr14:96304575 [GRCh38]
Chr14:96770912 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4868C>T (p.Pro1623Leu) single nucleotide variant not specified [RCV004423373] Chr14:96303230 [GRCh38]
Chr14:96769567 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5282A>T (p.Glu1761Val) single nucleotide variant not specified [RCV004423376] Chr14:96295104 [GRCh38]
Chr14:96761441 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5387C>T (p.Ala1796Val) single nucleotide variant not specified [RCV004423377] Chr14:96294999 [GRCh38]
Chr14:96761336 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1297C>T (p.Leu433Phe) single nucleotide variant not specified [RCV004423345] Chr14:96332566 [GRCh38]
Chr14:96798903 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2358T>A (p.Asp786Glu) single nucleotide variant not specified [RCV004423353] Chr14:96325728 [GRCh38]
Chr14:96792065 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4240A>C (p.Ser1414Arg) single nucleotide variant not specified [RCV004423364] Chr14:96309516 [GRCh38]
Chr14:96775853 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5835C>A (p.Asn1945Lys) single nucleotide variant not specified [RCV004423379] Chr14:96290457 [GRCh38]
Chr14:96756794 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1787G>A (p.Arg596Gln) single nucleotide variant not specified [RCV004423351] Chr14:96329578 [GRCh38]
Chr14:96795915 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3713T>C (p.Phe1238Ser) single nucleotide variant not specified [RCV004423360] Chr14:96313365 [GRCh38]
Chr14:96779702 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3995A>G (p.Glu1332Gly) single nucleotide variant not specified [RCV004423362] Chr14:96311283 [GRCh38]
Chr14:96777620 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4328T>G (p.Ile1443Ser) single nucleotide variant not specified [RCV004423365] Chr14:96306892 [GRCh38]
Chr14:96773229 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.43C>G (p.Arg15Gly) single nucleotide variant not specified [RCV004423366] Chr14:96362934 [GRCh38]
Chr14:96829271 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4499C>T (p.Ala1500Val) single nucleotide variant not specified [RCV004423367] Chr14:96306721 [GRCh38]
Chr14:96773058 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4585G>A (p.Val1529Ile) single nucleotide variant not specified [RCV004423368] Chr14:96305737 [GRCh38]
Chr14:96772074 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4923G>T (p.Gln1641His) single nucleotide variant not specified [RCV004423375] Chr14:96303175 [GRCh38]
Chr14:96769512 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.610G>A (p.Glu204Lys) single nucleotide variant not specified [RCV004423380] Chr14:96343253 [GRCh38]
Chr14:96809590 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2852A>C (p.Lys951Thr) single nucleotide variant not specified [RCV004423355] Chr14:96322139 [GRCh38]
Chr14:96788476 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2819C>T (p.Thr940Met) single nucleotide variant ATG2B-related disorder [RCV003949187] Chr14:96322172 [GRCh38]
Chr14:96788509 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.5219-4del deletion ATG2B-related disorder [RCV003961700] Chr14:96295171 [GRCh38]
Chr14:96761508 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.1405C>G (p.Gln469Glu) single nucleotide variant ATG2B-related disorder [RCV003921658] Chr14:96332368 [GRCh38]
Chr14:96798705 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.1322A>G (p.Tyr441Cys) single nucleotide variant not specified [RCV004423346] Chr14:96332541 [GRCh38]
Chr14:96798878 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1619C>T (p.Ala540Val) single nucleotide variant not specified [RCV004423347] Chr14:96331487 [GRCh38]
Chr14:96797824 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1806G>A (p.Met602Ile) single nucleotide variant not specified [RCV004423352] Chr14:96329559 [GRCh38]
Chr14:96795896 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1374T>C (p.Thr458=) single nucleotide variant ATG2B-related disorder [RCV003919790] Chr14:96332399 [GRCh38]
Chr14:96798736 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.4161+4C>T single nucleotide variant ATG2B-related disorder [RCV003964658] Chr14:96311113 [GRCh38]
Chr14:96777450 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.5941C>G (p.Arg1981Gly) single nucleotide variant ATG2B-related disorder [RCV003951662] Chr14:96289721 [GRCh38]
Chr14:96756058 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.2322A>T (p.Ser774=) single nucleotide variant ATG2B-related disorder [RCV003937038] Chr14:96325764 [GRCh38]
Chr14:96792101 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.3433C>T (p.Pro1145Ser) single nucleotide variant ATG2B-related disorder [RCV003979345] Chr14:96315512 [GRCh38]
Chr14:96781849 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.12G>A (p.Pro4=) single nucleotide variant ATG2B-related disorder [RCV003964320] Chr14:96362965 [GRCh38]
Chr14:96829302 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.379T>C (p.Leu127=) single nucleotide variant ATG2B-related disorder [RCV003944015] Chr14:96345332 [GRCh38]
Chr14:96811669 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.4079T>C (p.Ile1360Thr) single nucleotide variant ATG2B-related disorder [RCV003927371] Chr14:96311199 [GRCh38]
Chr14:96777536 [GRCh37]
Chr14:14q32.2		 benign
NM_018036.7(ATG2B):c.4602G>A (p.Thr1534=) single nucleotide variant ATG2B-related disorder [RCV003968921] Chr14:96305720 [GRCh38]
Chr14:96772057 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.925-9T>C single nucleotide variant ATG2B-related disorder [RCV003954669] Chr14:96334510 [GRCh38]
Chr14:96800847 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.2438-4_2438-3dup duplication ATG2B-related disorder [RCV003909581] Chr14:96324000..96324001 [GRCh38]
Chr14:96790337..96790338 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.5109G>A (p.Ser1703=) single nucleotide variant ATG2B-related disorder [RCV003977075] Chr14:96302037 [GRCh38]
Chr14:96768374 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.2289T>G (p.Ser763=) single nucleotide variant ATG2B-related disorder [RCV003954656] Chr14:96325797 [GRCh38]
Chr14:96792134 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.6150G>A (p.Thr2050=) single nucleotide variant ATG2B-related disorder [RCV003914430] Chr14:96285842 [GRCh38]
Chr14:96752179 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.1881+5A>G single nucleotide variant ATG2B-related disorder [RCV003941817] Chr14:96329479 [GRCh38]
Chr14:96795816 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.2831T>A (p.Ile944Asn) single nucleotide variant not specified [RCV004423354] Chr14:96322160 [GRCh38]
Chr14:96788497 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4781A>G (p.Asn1594Ser) single nucleotide variant not specified [RCV004423372] Chr14:96304556 [GRCh38]
Chr14:96770893 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3386C>T (p.Pro1129Leu) single nucleotide variant not specified [RCV004670256] Chr14:96315559 [GRCh38]
Chr14:96781896 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.143A>G (p.Gln48Arg) single nucleotide variant not specified [RCV004670297] Chr14:96362834 [GRCh38]
Chr14:96829171 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.6157G>C (p.Val2053Leu) single nucleotide variant not specified [RCV004670283] Chr14:96285835 [GRCh38]
Chr14:96752172 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4145T>C (p.Phe1382Ser) single nucleotide variant not specified [RCV004679105] Chr14:96311133 [GRCh38]
Chr14:96777470 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5611G>T (p.Ala1871Ser) single nucleotide variant not specified [RCV004670289] Chr14:96290904 [GRCh38]
Chr14:96757241 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1961A>C (p.Asn654Thr) single nucleotide variant not specified [RCV004670305] Chr14:96328687 [GRCh38]
Chr14:96795024 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3140A>G (p.Asn1047Ser) single nucleotide variant not specified [RCV004670313] Chr14:96317215 [GRCh38]
Chr14:96783552 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5278A>C (p.Lys1760Gln) single nucleotide variant not specified [RCV004670273] Chr14:96295108 [GRCh38]
Chr14:96761445 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.308G>A (p.Arg103Gln) single nucleotide variant not specified [RCV004670321] Chr14:96347196 [GRCh38]
Chr14:96813533 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1288A>G (p.Asn430Asp) single nucleotide variant not specified [RCV004670264] Chr14:96332575 [GRCh38]
Chr14:96798912 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5194C>T (p.Leu1732Phe) single nucleotide variant not specified [RCV004859905] Chr14:96295506 [GRCh38]
Chr14:96761843 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5296A>C (p.Ile1766Leu) single nucleotide variant not specified [RCV004859910] Chr14:96295090 [GRCh38]
Chr14:96761427 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.771C>G (p.Ser257Arg) single nucleotide variant not specified [RCV004859917] Chr14:96341675 [GRCh38]
Chr14:96808012 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5944T>G (p.Leu1982Val) single nucleotide variant not specified [RCV004859946] Chr14:96289718 [GRCh38]
Chr14:96756055 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q31.1-32.2(chr14:79886061-96870809)x1 copy number loss not provided [RCV004819380] Chr14:79886061..96870809 [GRCh37]
Chr14:14q31.1-32.2		 pathogenic
NM_018036.7(ATG2B):c.941A>G (p.Gln314Arg) single nucleotide variant not specified [RCV004859911] Chr14:96334485 [GRCh38]
Chr14:96800822 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.710C>A (p.Ala237Asp) single nucleotide variant not specified [RCV004859913] Chr14:96343153 [GRCh38]
Chr14:96809490 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2795A>C (p.Asn932Thr) single nucleotide variant not specified [RCV004859918] Chr14:96322196 [GRCh38]
Chr14:96788533 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2551A>C (p.Lys851Gln) single nucleotide variant not specified [RCV004859919] Chr14:96322725 [GRCh38]
Chr14:96789062 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2470A>G (p.Ile824Val) single nucleotide variant not specified [RCV004868049] Chr14:96323966 [GRCh38]
Chr14:96790303 [GRCh37]
Chr14:14q32.2		 likely benign
NM_018036.7(ATG2B):c.2593G>T (p.Ala865Ser) single nucleotide variant not specified [RCV004868054] Chr14:96322683 [GRCh38]
Chr14:96789020 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3341G>A (p.Ser1114Asn) single nucleotide variant not specified [RCV004868044] Chr14:96316553 [GRCh38]
Chr14:96782890 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.2476T>G (p.Phe826Val) single nucleotide variant not specified [RCV004868056] Chr14:96323960 [GRCh38]
Chr14:96790297 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3193G>A (p.Val1065Met) single nucleotide variant not specified [RCV004868061] Chr14:96317162 [GRCh38]
Chr14:96783499 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5992A>G (p.Ser1998Gly) single nucleotide variant not specified [RCV004868075] Chr14:96289670 [GRCh38]
Chr14:96756007 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.260T>C (p.Leu87Pro) single nucleotide variant not specified [RCV004868078] Chr14:96347244 [GRCh38]
Chr14:96813581 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3746A>G (p.Tyr1249Cys) single nucleotide variant not specified [RCV004868019] Chr14:96313332 [GRCh38]
Chr14:96779669 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1912G>C (p.Gly638Arg) single nucleotide variant not specified [RCV004868015] Chr14:96328736 [GRCh38]
Chr14:96795073 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.6082G>A (p.Val2028Met) single nucleotide variant not specified [RCV004868092] Chr14:96285910 [GRCh38]
Chr14:96752247 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.1238T>C (p.Met413Thr) single nucleotide variant not specified [RCV004868033] Chr14:96332625 [GRCh38]
Chr14:96798962 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.4790G>A (p.Cys1597Tyr) single nucleotide variant not specified [RCV004868006] Chr14:96304547 [GRCh38]
Chr14:96770884 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.5185G>A (p.Glu1729Lys) single nucleotide variant not specified [RCV004868011] Chr14:96295515 [GRCh38]
Chr14:96761852 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_018036.7(ATG2B):c.3296A>G (p.Tyr1099Cys) single nucleotide variant not specified [RCV004868068] Chr14:96316598 [GRCh38]
Chr14:96782935 [GRCh37]
Chr14:14q32.2		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR130Ahsa-miR-130a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22350415
MIR130Ahsa-miR-130a-3pOncomiRDBexternal_infoNANA22350415

Predicted Target Of
Summary Value
Count of predictions:2461
Count of miRNA genes:1180
Interacting mature miRNAs:1490
Transcripts:ENST00000261834, ENST00000359933, ENST00000473234, ENST00000488421, ENST00000553643, ENST00000554151, ENST00000555263
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
597260011GWAS1356085_Hdementia QTL GWAS1356085 (human)0.000002dementia149628369696283697Human
596951651GWAS1071170_Hdementia QTL GWAS1071170 (human)0.000002dementia149628369696283697Human

Markers in Region
RH47969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,751,208 - 96,751,327UniSTSGRCh37
Build 361495,820,961 - 95,821,080RGDNCBI36
Celera1476,806,926 - 76,807,045RGD
Cytogenetic Map14q32.2UniSTS
HuRef1476,936,310 - 76,936,429UniSTS
GeneMap99-GB4 RH Map14261.94UniSTS
NCBI RH Map141023.5UniSTS
G09667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,793,364 - 96,793,630UniSTSGRCh37
Build 361495,863,117 - 95,863,383RGDNCBI36
Celera1476,849,099 - 76,849,365RGD
Cytogenetic Map14q32.2UniSTS
HuRef1476,978,468 - 76,978,728UniSTS
SHGC-83632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,761,143 - 96,761,457UniSTSGRCh37
Build 361495,830,896 - 95,831,210RGDNCBI36
Celera1476,816,865 - 76,817,179RGD
Cytogenetic Map14q32.2UniSTS
HuRef1476,946,248 - 76,946,562UniSTS
TNG Radiation Hybrid Map1438604.0UniSTS
SHGC-83311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,756,469 - 96,756,747UniSTSGRCh37
Build 361495,826,222 - 95,826,500RGDNCBI36
Celera1476,812,191 - 76,812,469RGD
Cytogenetic Map14q32.2UniSTS
HuRef1476,941,574 - 76,941,852UniSTS
TNG Radiation Hybrid Map1438614.0UniSTS
RH119276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,761,198 - 96,761,501UniSTSGRCh37
Build 361495,830,951 - 95,831,254RGDNCBI36
Celera1476,816,920 - 76,817,223RGD
Cytogenetic Map14q32.2UniSTS
HuRef1476,946,303 - 76,946,606UniSTS
TNG Radiation Hybrid Map1438611.0UniSTS
RH70020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,747,657 - 96,747,812UniSTSGRCh37
Build 361495,817,410 - 95,817,565RGDNCBI36
Celera1476,803,374 - 76,803,529RGD
Cytogenetic Map14q32.2UniSTS
HuRef1476,932,758 - 76,932,913UniSTS
GeneMap99-GB4 RH Map14261.84UniSTS
WI-14378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,750,078 - 96,750,183UniSTSGRCh37
Build 361495,819,831 - 95,819,936RGDNCBI36
Celera1476,805,796 - 76,805,901RGD
Cytogenetic Map14q32.2UniSTS
HuRef1476,935,180 - 76,935,285UniSTS
GeneMap99-GB4 RH Map14261.84UniSTS
Whitehead-RH Map14339.2UniSTS
A006S30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,747,694 - 96,747,793UniSTSGRCh37
Build 361495,817,447 - 95,817,546RGDNCBI36
Celera1476,803,411 - 76,803,510RGD
Cytogenetic Map14q32.2UniSTS
HuRef1476,932,795 - 76,932,894UniSTS
GeneMap99-GB4 RH Map14261.84UniSTS
NCBI RH Map141040.6UniSTS


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
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK001104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW264403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU101822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU166120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU167202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,290,136 - 96,311,263 (-)Ensembl
Ensembl Acc Id: ENST00000359933   ⟹   ENSP00000353010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,279,195 - 96,363,341 (-)Ensembl
Ensembl Acc Id: ENST00000473234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,317,148 - 96,324,178 (-)Ensembl
Ensembl Acc Id: ENST00000488421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,317,723 - 96,322,435 (-)Ensembl
Ensembl Acc Id: ENST00000553643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,290,570 - 96,291,938 (-)Ensembl
Ensembl Acc Id: ENST00000554151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,292,982 - 96,295,059 (-)Ensembl
Ensembl Acc Id: ENST00000555263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,289,456 - 96,290,577 (-)Ensembl
RefSeq Acc Id: NM_018036   ⟹   NP_060506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,279,195 - 96,363,341 (-)NCBI
GRCh371496,747,595 - 96,829,678 (-)RGD
Build 361495,817,348 - 95,899,431 (-)NCBI Archive
Celera1476,803,312 - 76,885,404 (-)RGD
HuRef1476,932,696 - 77,014,765 (-)ENTREZGENE
CHM1_11496,686,513 - 96,768,523 (-)NCBI
T2T-CHM13v2.01490,510,437 - 90,594,937 (-)NCBI
Sequence:
RefSeq Acc Id: NP_060506   ⟸   NM_018036
- UniProtKB: Q96DQ3 (UniProtKB/Swiss-Prot),   Q96BY7 (UniProtKB/Swiss-Prot),   Q6ZRE7 (UniProtKB/Swiss-Prot),   Q9NW80 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000353010   ⟸   ENST00000359933
Protein Domains
Chorein N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96BY7-F1-model_v2 AlphaFold Q96BY7 1-2078 view protein structure

Promoters
RGD ID:6791275
Promoter ID:HG_KWN:20121
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000314037
Position:
Human AssemblyChrPosition (strand)Source
Build 361495,899,471 - 95,900,272 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20187 AgrOrtholog
COSMIC ATG2B COSMIC
Ensembl Genes ENSG00000066739 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000359933 ENTREZGENE
  ENST00000359933.6 UniProtKB/Swiss-Prot
GTEx ENSG00000066739 GTEx
HGNC ID HGNC:20187 ENTREZGENE
Human Proteome Map ATG2B Human Proteome Map
InterPro ATG2 UniProtKB/Swiss-Prot
  ATG2_mid_RBG UniProtKB/Swiss-Prot
  Autophagy-rel_C UniProtKB/Swiss-Prot
  VPS13_N UniProtKB/Swiss-Prot
KEGG Report hsa:55102 UniProtKB/Swiss-Prot
NCBI Gene 55102 ENTREZGENE
OMIM 616226 OMIM
PANTHER AUTOPHAGY-RELATED PROTEIN 2 HOMOLOG B UniProtKB/Swiss-Prot
  PTHR13190 UniProtKB/Swiss-Prot
Pfam ATG2_CAD UniProtKB/Swiss-Prot
  ATG_C UniProtKB/Swiss-Prot
  Chorein_N UniProtKB/Swiss-Prot
PharmGKB PA162377102 PharmGKB
UniProt ATG2B_HUMAN UniProtKB/Swiss-Prot
  L8E8U7_HUMAN UniProtKB/TrEMBL
  Q6ZRE7 ENTREZGENE
  Q96BY7 ENTREZGENE
  Q96DQ3 ENTREZGENE
  Q9NW80 ENTREZGENE
UniProt Secondary Q6ZRE7 UniProtKB/Swiss-Prot
  Q96DQ3 UniProtKB/Swiss-Prot
  Q9NW80 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-06-12 ATG2B  autophagy related 2B  ATG2B  ATG2 autophagy related 2 homolog B (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED