Canonical Allele Identifier: CA2077137719

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20187923G= , CM000675.2:g.20187923G=	GRCh38
NC_000013.10:g.20762062G= , CM000675.1:g.20762062G=	GRCh37
NC_000013.9:g.19660062G=	NCBI36
NG_008358.1:g.10053C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*978C=	ENSP00000372295.1:n.*978C=
ENST00000382848.5:c.*978C= MANE Select	ENSP00000372299.4:n.*978C=
ENST00000382844.1:c.*978C=	ENSP00000372295.1:n.*978C=
ENST00000382848.4:c.*978C=	ENSP00000372299.4:n.*978C=
NM_004004.5:c.*978C=	NP_003995.2:n.*978C=
XM_011535049.1:c.*978C=	XP_011533351.1:n.*978C=
XM_011535049.2:c.*978C=	XP_011533351.1:n.*978C=
NM_004004.6:c.*978C= MANE Select	NP_003995.2:n.*978C=