Canonical Allele Identifier: CA2077110702

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189862A= , CM000675.2:g.20189862A=	GRCh38
NC_000013.10:g.20764001A= , CM000675.1:g.20764001A=	GRCh37
NC_000013.9:g.19662001A=	NCBI36
NG_008358.1:g.8114T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382848.5:c.-22-259T= MANE Select	ENSP00000372299.4:n.-22-259T=
ENST00000382848.4:c.-22-259T=	ENSP00000372299.4:n.-22-259T=
NM_004004.5:c.-22-259T=	NP_003995.2:n.-22-259T=
XM_011535049.1:c.-22-259T=	XP_011533351.1:n.-22-259T=
XM_011535049.2:c.-22-259T=	XP_011533351.1:n.-22-259T=
NM_004004.6:c.-22-259T= MANE Select	NP_003995.2:n.-22-259T=