Canonical Allele Identifier: CA1979444631

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868556G= , CM000673.2:g.65868556G=	GRCh38
NC_000011.9:g.65636027G= , CM000673.1:g.65636027G=	GRCh37
NC_000011.8:g.65392603G=	NCBI36
NG_012304.2:g.9379C=
NG_053116.1:g.13495G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.801C= MANE Select	ENSP00000309953.6:p.Cys267=
ENST00000307998.10:c.801C=	ENSP00000309953.6:p.Cys267=
ENST00000526628.5:n.1367C=
ENST00000527969.1:n.1486C=
ENST00000528176.5:c.801C=	ENSP00000434151.1:p.Cys267=
ENST00000531005.5:n.1795C=
ENST00000531972.5:c.801C=	ENSP00000435295.1:p.Cys267=
ENST00000532084.5:n.227C=
NM_016938.4:c.801C=	NP_058634.4:p.Cys267=
NR_037718.1:n.1060C=
NM_016938.5:c.801C= MANE Select	NP_058634.4:p.Cys267=
NR_037718.2:n.926C=