Canonical Allele Identifier: CA2077110442

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189708A= , CM000675.2:g.20189708A=	GRCh38
NC_000013.10:g.20763847A= , CM000675.1:g.20763847A=	GRCh37
NC_000013.9:g.19661847A=	NCBI36
NG_008358.1:g.8268T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-127T=	ENSP00000372295.1:n.-127T=
ENST00000382848.5:c.-22-105T= MANE Select	ENSP00000372299.4:n.-22-105T=
ENST00000382844.1:c.-127T=	ENSP00000372295.1:n.-127T=
ENST00000382848.4:c.-22-105T=	ENSP00000372299.4:n.-22-105T=
NM_004004.5:c.-22-105T=	NP_003995.2:n.-22-105T=
XM_011535049.1:c.-22-105T=	XP_011533351.1:n.-22-105T=
XM_011535049.2:c.-22-105T=	XP_011533351.1:n.-22-105T=
NM_004004.6:c.-22-105T= MANE Select	NP_003995.2:n.-22-105T=