Canonical Allele Identifier: CA953781319

Gene: GJB2

Linked Data

• dbSNP Id: rs1959053306
• gnomAD v3: 13-20188717-G-A
• gnomAD v4: 13-20188717-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188717G>A , CM000675.2:g.20188717G>A	GRCh38
NC_000013.10:g.20762856G>A , CM000675.1:g.20762856G>A	GRCh37
NC_000013.9:g.19660856G>A	NCBI36
NG_008358.1:g.9259C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*184C>T	ENSP00000372295.1:n.*184C>T
ENST00000382848.5:c.*184C>T MANE Select	ENSP00000372299.4:n.*184C>T
ENST00000382844.1:c.*184C>T	ENSP00000372295.1:n.*184C>T
ENST00000382848.4:c.*184C>T	ENSP00000372299.4:n.*184C>T
NM_004004.5:c.*184C>T	NP_003995.2:n.*184C>T
XM_011535049.1:c.*184C>T	XP_011533351.1:n.*184C>T
XM_011535049.2:c.*184C>T	XP_011533351.1:n.*184C>T
NM_004004.6:c.*184C>T MANE Select	NP_003995.2:n.*184C>T