Canonical Allele Identifier: CA953782304

Gene: GJB2

Linked Data

• dbSNP Id: rs1337807856
• gnomAD v3: 13-20189723-C-A
• gnomAD v4: 13-20189723-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189723C>A , CM000675.2:g.20189723C>A	GRCh38
NC_000013.10:g.20763862C>A , CM000675.1:g.20763862C>A	GRCh37
NC_000013.9:g.19661862C>A	NCBI36
NG_008358.1:g.8253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-142G>T	ENSP00000372295.1:n.-142G>T
ENST00000382848.5:c.-22-120G>T MANE Select	ENSP00000372299.4:n.-22-120G>T
ENST00000382844.1:c.-142G>T	ENSP00000372295.1:n.-142G>T
ENST00000382848.4:c.-22-120G>T	ENSP00000372299.4:n.-22-120G>T
NM_004004.5:c.-22-120G>T	NP_003995.2:n.-22-120G>T
XM_011535049.1:c.-22-120G>T	XP_011533351.1:n.-22-120G>T
XM_011535049.2:c.-22-120G>T	XP_011533351.1:n.-22-120G>T
NM_004004.6:c.-22-120G>T MANE Select	NP_003995.2:n.-22-120G>T