Canonical Allele Identifier: CA2077110739

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189889T= , CM000675.2:g.20189889T=	GRCh38
NC_000013.10:g.20764028T= , CM000675.1:g.20764028T=	GRCh37
NC_000013.9:g.19662028T=	NCBI36
NG_008358.1:g.8087A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382848.5:c.-22-286A= MANE Select	ENSP00000372299.4:n.-22-286A=
ENST00000382848.4:c.-22-286A=	ENSP00000372299.4:n.-22-286A=
NM_004004.5:c.-22-286A=	NP_003995.2:n.-22-286A=
XM_011535049.1:c.-22-286A=	XP_011533351.1:n.-22-286A=
XM_011535049.2:c.-22-286A=	XP_011533351.1:n.-22-286A=
NM_004004.6:c.-22-286A= MANE Select	NP_003995.2:n.-22-286A=