Canonical Allele Identifier: CA6904339

Gene: GJB2

Linked Data

• dbSNP Id: rs398123813
• ExAC: 13:20763727 C / G
• gnomAD v2: 13-20763727-C-G
• gnomAD v4: 13-20189588-C-G
• MyVariant Identifiers: chr13:g.20763727C>G (hg19) ; chr13:g.20189588C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189588C>G , CM000675.2:g.20189588C>G	GRCh38
NC_000013.10:g.20763727C>G , CM000675.1:g.20763727C>G	GRCh37
NC_000013.9:g.19661727C>G	NCBI36
NG_008358.1:g.8388G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-7G>C	ENSP00000372295.1:n.-7G>C
ENST00000382848.5:c.-7G>C MANE Select	ENSP00000372299.4:n.-7G>C
ENST00000382844.1:c.-7G>C	ENSP00000372295.1:n.-7G>C
ENST00000382848.4:c.-7G>C	ENSP00000372299.4:n.-7G>C
NM_004004.5:c.-7G>C	NP_003995.2:n.-7G>C
XM_011535049.1:c.-7G>C	XP_011533351.1:n.-7G>C
XM_011535049.2:c.-7G>C	XP_011533351.1:n.-7G>C
NM_004004.6:c.-7G>C MANE Select	NP_003995.2:n.-7G>C