Canonical Allele Identifier: CA172223
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44737
ClinVar RCV Id: RCV000037836 RCV000080370 RCV000146016 RCV000211774 RCV000678878 RCV001004389 RCV001257561
dbSNP Id: rs111033253
ExAC: 13:20763394 CCCCTTGATGAACTT / C
gnomAD v2: 13-20763394-CCCCTTGATGAACTT-C
gnomAD v3: 13-20189255-CCCCTTGATGAACTT-C
gnomAD v4: 13-20189255-CCCCTTGATGAACTT-C
MyVariant Identifiers: chr13:g.20763395_20763408del (hg19) chr13:g.20763395_20763408delCCCTTGATGAACTT (hg19) chr13:g.20189257_20189270del (hg38) chr13:g.20189256_20189269del (hg38)
PubMed: PMID:10218527 PMID:11551103 PMID:12112666 PMID:12172394 PMID:14985372 PMID:15146474 PMID:15253766 PMID:15967879 PMID:16379542 PMID:22567152 PMID:23891399 PMID:26896187 PMID:27224056
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189258_20189271del , CM000675.2:g.20189258_20189271del GRCh38
NC_000013.10:g.20763397_20763410del , CM000675.1:g.20763397_20763410del GRCh37
NC_000013.9:g.19661397_19661410del NCBI36
NG_008358.1:g.8707_8720del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.313_326del ENSP00000372295.1:p.Lys105GlyfsTer5
ENST00000382848.5:c.313_326del MANE Select ENSP00000372299.4:p.Lys105GlyfsTer5
ENST00000382844.1:c.313_326del ENSP00000372295.1:p.Lys105GlyfsTer5
ENST00000382848.4:c.313_326del ENSP00000372299.4:p.Lys105GlyfsTer5
NM_004004.5:c.313_326del NP_003995.2:p.Lys105GlyfsTer5
XM_011535049.1:c.313_326del XP_011533351.1:p.Lys105GlyfsTer5
XM_011535049.2:c.313_326del XP_011533351.1:p.Lys105GlyfsTer5
NM_004004.6:c.313_326del MANE Select NP_003995.2:p.Lys105GlyfsTer5
Search 100 bp 5'
Search 100 bp 3'