Canonical Allele Identifier: CA1979443752

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868303G= , CM000673.2:g.65868303G=	GRCh38
NC_000011.9:g.65635774G= , CM000673.1:g.65635774G=	GRCh37
NC_000011.8:g.65392350G=	NCBI36
NG_012304.2:g.9632C=
NG_053116.1:g.13242G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.966C= MANE Select	ENSP00000309953.6:p.Val322=
ENST00000307998.10:c.966C=	ENSP00000309953.6:p.Val322=
ENST00000525392.1:n.127C=
ENST00000526628.5:n.1532C=
ENST00000528176.5:c.966C=	ENSP00000434151.1:p.Val322=
ENST00000528409.1:n.207+3C=
ENST00000530806.5:c.-33C=	ENSP00000436526.1:n.-33C=
ENST00000531005.5:n.1960C=
ENST00000531645.5:c.114C=	ENSP00000436521.1:p.Val38=
ENST00000531972.5:c.966C=	ENSP00000435295.1:p.Val322=
ENST00000532084.5:n.392C=
NM_016938.4:c.966C=	NP_058634.4:p.Val322=
NR_037718.1:n.1225C=
NM_016938.5:c.966C= MANE Select	NP_058634.4:p.Val322=
NR_037718.2:n.1091C=