Canonical Allele Identifier: CA260408
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36277
ClinVar RCV Id: RCV000029940 RCV000266913 RCV000359458 RCV001519507
dbSNP Id: rs3751385
gnomAD v2: 13-20762956-A-G
gnomAD v3: 13-20188817-A-G
gnomAD v4: 13-20188817-A-G
MyVariant Identifiers: chr13:g.20762956A>G (hg19) chr13:g.20188817A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188817A>G , CM000675.2:g.20188817A>G GRCh38
NC_000013.10:g.20762956A>G , CM000675.1:g.20762956A>G GRCh37
NC_000013.9:g.19660956A>G NCBI36
NG_008358.1:g.9159T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*84T>C ENSP00000372295.1:n.*84T>C
ENST00000382848.5:c.*84T>C MANE Select ENSP00000372299.4:n.*84T>C
ENST00000382844.1:c.*84T>C ENSP00000372295.1:n.*84T>C
ENST00000382848.4:c.*84T>C ENSP00000372299.4:n.*84T>C
NM_004004.5:c.*84T>C NP_003995.2:n.*84T>C
XM_011535049.1:c.*84T>C XP_011533351.1:n.*84T>C
XM_011535049.2:c.*84T>C XP_011533351.1:n.*84T>C
NM_004004.6:c.*84T>C MANE Select NP_003995.2:n.*84T>C
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