Canonical Allele Identifier: CA2077138651

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188934T= , CM000675.2:g.20188934T=	GRCh38
NC_000013.10:g.20763073T= , CM000675.1:g.20763073T=	GRCh37
NC_000013.9:g.19661073T=	NCBI36
NG_008358.1:g.9042A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.648A=	ENSP00000372295.1:p.Arg216=
ENST00000382848.5:c.648A= MANE Select	ENSP00000372299.4:p.Arg216=
ENST00000382844.1:c.648A=	ENSP00000372295.1:p.Arg216=
ENST00000382848.4:c.648A=	ENSP00000372299.4:p.Arg216=
NM_004004.5:c.648A=	NP_003995.2:p.Arg216=
XM_011535049.1:c.648A=	XP_011533351.1:p.Arg216=
XM_011535049.2:c.648A=	XP_011533351.1:p.Arg216=
NM_004004.6:c.648A= MANE Select	NP_003995.2:p.Arg216=