Canonical Allele Identifier: CA2077110525

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189775T= , CM000675.2:g.20189775T=	GRCh38
NC_000013.10:g.20763914T= , CM000675.1:g.20763914T=	GRCh37
NC_000013.9:g.19661914T=	NCBI36
NG_008358.1:g.8201A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-194A=	ENSP00000372295.1:n.-194A=
ENST00000382848.5:c.-22-172A= MANE Select	ENSP00000372299.4:n.-22-172A=
ENST00000382844.1:c.-194A=	ENSP00000372295.1:n.-194A=
ENST00000382848.4:c.-22-172A=	ENSP00000372299.4:n.-22-172A=
NM_004004.5:c.-22-172A=	NP_003995.2:n.-22-172A=
XM_011535049.1:c.-22-172A=	XP_011533351.1:n.-22-172A=
XM_011535049.2:c.-22-172A=	XP_011533351.1:n.-22-172A=
NM_004004.6:c.-22-172A= MANE Select	NP_003995.2:n.-22-172A=