Canonical Allele Identifier: CA2077139207

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189142T= , CM000675.2:g.20189142T=	GRCh38
NC_000013.10:g.20763281T= , CM000675.1:g.20763281T=	GRCh37
NC_000013.9:g.19661281T=	NCBI36
NG_008358.1:g.8834A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.440A=	ENSP00000372295.1:p.Glu147=
ENST00000382848.5:c.440A= MANE Select	ENSP00000372299.4:p.Glu147=
ENST00000382844.1:c.440A=	ENSP00000372295.1:p.Glu147=
ENST00000382848.4:c.440A=	ENSP00000372299.4:p.Glu147=
NM_004004.5:c.440A=	NP_003995.2:p.Glu147=
XM_011535049.1:c.440A=	XP_011533351.1:p.Glu147=
XM_011535049.2:c.440A=	XP_011533351.1:p.Glu147=
NM_004004.6:c.440A= MANE Select	NP_003995.2:p.Glu147=