Canonical Allele Identifier: CA2077137711

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20187921C= , CM000675.2:g.20187921C=	GRCh38
NC_000013.10:g.20762060C= , CM000675.1:g.20762060C=	GRCh37
NC_000013.9:g.19660060C=	NCBI36
NG_008358.1:g.10055G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*980G=	ENSP00000372295.1:n.*980G=
ENST00000382848.5:c.*980G= MANE Select	ENSP00000372299.4:n.*980G=
ENST00000382844.1:c.*980G=	ENSP00000372295.1:n.*980G=
ENST00000382848.4:c.*980G=	ENSP00000372299.4:n.*980G=
NM_004004.5:c.*980G=	NP_003995.2:n.*980G=
XM_011535049.1:c.*980G=	XP_011533351.1:n.*980G=
XM_011535049.2:c.*980G=	XP_011533351.1:n.*980G=
NM_004004.6:c.*980G= MANE Select	NP_003995.2:n.*980G=