Canonical Allele Identifier: CA1979444585

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868531G= , CM000673.2:g.65868531G=	GRCh38
NC_000011.9:g.65636002G= , CM000673.1:g.65636002G=	GRCh37
NC_000011.8:g.65392578G=	NCBI36
NG_012304.2:g.9404C=
NG_053116.1:g.13470G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.826C= MANE Select	ENSP00000309953.6:p.Leu276=
ENST00000307998.10:c.826C=	ENSP00000309953.6:p.Leu276=
ENST00000526628.5:n.1392C=
ENST00000527969.1:n.1511C=
ENST00000528176.5:c.826C=	ENSP00000434151.1:p.Leu276=
ENST00000530806.5:c.-173C=	ENSP00000436526.1:n.-173C=
ENST00000531005.5:n.1820C=
ENST00000531972.5:c.826C=	ENSP00000435295.1:p.Leu276=
ENST00000532084.5:n.252C=
NM_016938.4:c.826C=	NP_058634.4:p.Leu276=
NR_037718.1:n.1085C=
NM_016938.5:c.826C= MANE Select	NP_058634.4:p.Leu276=
NR_037718.2:n.951C=