Canonical Allele Identifier: CA2077139968

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189362T= , CM000675.2:g.20189362T=	GRCh38
NC_000013.10:g.20763501T= , CM000675.1:g.20763501T=	GRCh37
NC_000013.9:g.19661501T=	NCBI36
NG_008358.1:g.8614A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.220A=	ENSP00000372295.1:p.Ile74=
ENST00000382848.5:c.220A= MANE Select	ENSP00000372299.4:p.Ile74=
ENST00000382844.1:c.220A=	ENSP00000372295.1:p.Ile74=
ENST00000382848.4:c.220A=	ENSP00000372299.4:p.Ile74=
NM_004004.5:c.220A=	NP_003995.2:p.Ile74=
XM_011535049.1:c.220A=	XP_011533351.1:p.Ile74=
XM_011535049.2:c.220A=	XP_011533351.1:p.Ile74=
NM_004004.6:c.220A= MANE Select	NP_003995.2:p.Ile74=