Canonical Allele Identifier: CA483154061

Gene: GJB2

Linked Data

• COSMIC: COSM5493077
• MyVariant Identifiers: chr13:g.20763709G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189570G>A , CM000675.2:g.20189570G>A	GRCh38
NC_000013.10:g.20763709G>A , CM000675.1:g.20763709G>A	GRCh37
NC_000013.9:g.19661709G>A	NCBI36
NG_008358.1:g.8406C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.12C>T	ENSP00000372295.1:p.Gly4=
ENST00000382848.5:c.12C>T MANE Select	ENSP00000372299.4:p.Gly4=
ENST00000382844.1:c.12C>T	ENSP00000372295.1:p.Gly4=
ENST00000382848.4:c.12C>T	ENSP00000372299.4:p.Gly4=
NM_004004.5:c.12C>T	NP_003995.2:p.Gly4=
XM_011535049.1:c.12C>T	XP_011533351.1:p.Gly4=
XM_011535049.2:c.12C>T	XP_011533351.1:p.Gly4=
NM_004004.6:c.12C>T MANE Select	NP_003995.2:p.Gly4=