Canonical Allele Identifier: CA246459306

Gene: GJB2

Linked Data

• dbSNP Id: rs529731731
• gnomAD v3: 13-20188398-T-C
• gnomAD v4: 13-20188398-T-C
• MyVariant Identifiers: chr13:g.20762537T>C (hg19) ; chr13:g.20188398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188398T>C , CM000675.2:g.20188398T>C	GRCh38
NC_000013.10:g.20762537T>C , CM000675.1:g.20762537T>C	GRCh37
NC_000013.9:g.19660537T>C	NCBI36
NG_008358.1:g.9578A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*503A>G	ENSP00000372295.1:n.*503A>G
ENST00000382848.5:c.*503A>G MANE Select	ENSP00000372299.4:n.*503A>G
ENST00000382844.1:c.*503A>G	ENSP00000372295.1:n.*503A>G
ENST00000382848.4:c.*503A>G	ENSP00000372299.4:n.*503A>G
NM_004004.5:c.*503A>G	NP_003995.2:n.*503A>G
XM_011535049.1:c.*503A>G	XP_011533351.1:n.*503A>G
XM_011535049.2:c.*503A>G	XP_011533351.1:n.*503A>G
NM_004004.6:c.*503A>G MANE Select	NP_003995.2:n.*503A>G