Canonical Allele Identifier: CA2077110474

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189742G= , CM000675.2:g.20189742G=	GRCh38
NC_000013.10:g.20763881G= , CM000675.1:g.20763881G=	GRCh37
NC_000013.9:g.19661881G=	NCBI36
NG_008358.1:g.8234C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-161C=	ENSP00000372295.1:n.-161C=
ENST00000382848.5:c.-22-139C= MANE Select	ENSP00000372299.4:n.-22-139C=
ENST00000382844.1:c.-161C=	ENSP00000372295.1:n.-161C=
ENST00000382848.4:c.-22-139C=	ENSP00000372299.4:n.-22-139C=
NM_004004.5:c.-22-139C=	NP_003995.2:n.-22-139C=
XM_011535049.1:c.-22-139C=	XP_011533351.1:n.-22-139C=
XM_011535049.2:c.-22-139C=	XP_011533351.1:n.-22-139C=
NM_004004.6:c.-22-139C= MANE Select	NP_003995.2:n.-22-139C=