Canonical Allele Identifier: CA246459546
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 882590
ClinVar RCV Id: RCV001112371 RCV001112372 RCV001113724 RCV002491357
dbSNP Id: rs557953001
gnomAD v2: 13-20762925-T-G
gnomAD v3: 13-20188786-T-G
gnomAD v4: 13-20188786-T-G
MyVariant Identifiers: chr13:g.20762925T>G (hg19) chr13:g.20188786T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188786T>G , CM000675.2:g.20188786T>G GRCh38
NC_000013.10:g.20762925T>G , CM000675.1:g.20762925T>G GRCh37
NC_000013.9:g.19660925T>G NCBI36
NG_008358.1:g.9190A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*115A>C ENSP00000372295.1:n.*115A>C
ENST00000382848.5:c.*115A>C MANE Select ENSP00000372299.4:n.*115A>C
ENST00000382844.1:c.*115A>C ENSP00000372295.1:n.*115A>C
ENST00000382848.4:c.*115A>C ENSP00000372299.4:n.*115A>C
NM_004004.5:c.*115A>C NP_003995.2:n.*115A>C
XM_011535049.1:c.*115A>C XP_011533351.1:n.*115A>C
XM_011535049.2:c.*115A>C XP_011533351.1:n.*115A>C
NM_004004.6:c.*115A>C MANE Select NP_003995.2:n.*115A>C
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