Canonical Allele Identifier: CA2077110477

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189747G= , CM000675.2:g.20189747G=	GRCh38
NC_000013.10:g.20763886G= , CM000675.1:g.20763886G=	GRCh37
NC_000013.9:g.19661886G=	NCBI36
NG_008358.1:g.8229C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-166C=	ENSP00000372295.1:n.-166C=
ENST00000382848.5:c.-22-144C= MANE Select	ENSP00000372299.4:n.-22-144C=
ENST00000382844.1:c.-166C=	ENSP00000372295.1:n.-166C=
ENST00000382848.4:c.-22-144C=	ENSP00000372299.4:n.-22-144C=
NM_004004.5:c.-22-144C=	NP_003995.2:n.-22-144C=
XM_011535049.1:c.-22-144C=	XP_011533351.1:n.-22-144C=
XM_011535049.2:c.-22-144C=	XP_011533351.1:n.-22-144C=
NM_004004.6:c.-22-144C= MANE Select	NP_003995.2:n.-22-144C=