Canonical Allele Identifier: CA1979444707

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868567G= , CM000673.2:g.65868567G=	GRCh38
NC_000011.9:g.65636038G= , CM000673.1:g.65636038G=	GRCh37
NC_000011.8:g.65392614G=	NCBI36
NG_012304.2:g.9368C=
NG_053116.1:g.13506G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.790C= MANE Select	ENSP00000309953.6:p.Arg264=
ENST00000307998.10:c.790C=	ENSP00000309953.6:p.Arg264=
ENST00000526628.5:n.1356C=
ENST00000527969.1:n.1475C=
ENST00000528176.5:c.790C=	ENSP00000434151.1:p.Arg264=
ENST00000531005.5:n.1784C=
ENST00000531972.5:c.790C=	ENSP00000435295.1:p.Arg264=
ENST00000532084.5:n.216C=
NM_016938.4:c.790C=	NP_058634.4:p.Arg264=
NR_037718.1:n.1049C=
NM_016938.5:c.790C= MANE Select	NP_058634.4:p.Arg264=
NR_037718.2:n.915C=