Canonical Allele Identifier: CA273448
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 177737
ClinVar RCV Id: RCV001257559 RCV001270032 RCV002492582
dbSNP Id: rs730880338
ExAC: 13:20763451 T / TA
gnomAD v2: 13-20763451-T-TA
gnomAD v3: 13-20189312-T-TA
gnomAD v4: 13-20189312-T-TA
MyVariant Identifiers: chr13:g.20763452dupA (hg19) chr13:g.20763451_20763452insA (hg19) chr13:g.20189313dupA (hg38) chr13:g.20189312_20189313insA (hg38)
PubMed: PMID:10218527 PMID:10376574 PMID:11102979 PMID:11977173 PMID:12865758 PMID:15577772 PMID:16380907 PMID:17146393 PMID:20022641 PMID:20553101 PMID:23039283 PMID:23555729 PMID:24158611
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189313dup , CM000675.2:g.20189313dup GRCh38
NC_000013.10:g.20763452dup , CM000675.1:g.20763452dup GRCh37
NC_000013.9:g.19661452dup NCBI36
NG_008358.1:g.8663dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.269dup ENSP00000372295.1:p.Val91SerfsTer11
ENST00000382848.5:c.269dup MANE Select ENSP00000372299.4:p.Val91SerfsTer11
ENST00000382844.1:c.269dup ENSP00000372295.1:p.Val91SerfsTer11
ENST00000382848.4:c.269dup ENSP00000372299.4:p.Val91SerfsTer11
NM_004004.5:c.269dup NP_003995.2:p.Val91SerfsTer11
XM_011535049.1:c.269dup XP_011533351.1:p.Val91SerfsTer11
XM_011535049.2:c.269dup XP_011533351.1:p.Val91SerfsTer11
NM_004004.6:c.269dup MANE Select NP_003995.2:p.Val91SerfsTer11
Search 100 bp 5'
Search 100 bp 3'