Canonical Allele Identifier: CA2077139706

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189314G= , CM000675.2:g.20189314G=	GRCh38
NC_000013.10:g.20763453G= , CM000675.1:g.20763453G=	GRCh37
NC_000013.9:g.19661453G=	NCBI36
NG_008358.1:g.8662C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.268C=	ENSP00000372295.1:p.Leu90=
ENST00000382848.5:c.268C= MANE Select	ENSP00000372299.4:p.Leu90=
ENST00000382844.1:c.268C=	ENSP00000372295.1:p.Leu90=
ENST00000382848.4:c.268C=	ENSP00000372299.4:p.Leu90=
NM_004004.5:c.268C=	NP_003995.2:p.Leu90=
XM_011535049.1:c.268C=	XP_011533351.1:p.Leu90=
XM_011535049.2:c.268C=	XP_011533351.1:p.Leu90=
NM_004004.6:c.268C= MANE Select	NP_003995.2:p.Leu90=