Canonical Allele Identifier: CA134966
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44745
ClinVar RCV Id: RCV000037847 RCV000325483 RCV000505535 RCV000626854 RCV000589067 RCV001109789 RCV001257158
dbSNP Id: rs111033196
ExAC: 13:20763341 C / T
gnomAD v2: 13-20763341-C-T
gnomAD v3: 13-20189202-C-T
gnomAD v4: 13-20189202-C-T
MyVariant Identifiers: chr13:g.20763341C>T (hg19) chr13:g.20189202C>T (hg38)
PubMed: PMID:9482292 PMID:11493200 PMID:12176036 PMID:12189493 PMID:12562518 PMID:12746422 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15967879 PMID:16300957 PMID:16380907 PMID:16840571 PMID:17426645 PMID:19366456 PMID:20668687 PMID:22037723 PMID:22389666 PMID:22613756 PMID:26188157 PMID:26749107 PMID:27884173
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189202C>T , CM000675.2:g.20189202C>T GRCh38
NC_000013.10:g.20763341C>T , CM000675.1:g.20763341C>T GRCh37
NC_000013.9:g.19661341C>T NCBI36
NG_008358.1:g.8774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.380G>A ENSP00000372295.1:p.Arg127His
ENST00000382848.5:c.380G>A MANE Select ENSP00000372299.4:p.Arg127His
ENST00000382844.1:c.380G>A ENSP00000372295.1:p.Arg127His
ENST00000382848.4:c.380G>A ENSP00000372299.4:p.Arg127His
NM_004004.5:c.380G>A NP_003995.2:p.Arg127His
XM_011535049.1:c.380G>A XP_011533351.1:p.Arg127His
XM_011535049.2:c.380G>A XP_011533351.1:p.Arg127His
NM_004004.6:c.380G>A MANE Select NP_003995.2:p.Arg127His
Search 100 bp 5'
Search 100 bp 3'