Canonical Allele Identifier: CA1979444783

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868583G= , CM000673.2:g.65868583G=	GRCh38
NC_000011.9:g.65636054G= , CM000673.1:g.65636054G=	GRCh37
NC_000011.8:g.65392630G=	NCBI36
NG_012304.2:g.9352C=
NG_053116.1:g.13522G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.774C= MANE Select	ENSP00000309953.6:p.Cys258=
ENST00000307998.10:c.774C=	ENSP00000309953.6:p.Cys258=
ENST00000526628.5:n.1340C=
ENST00000527969.1:n.1459C=
ENST00000528176.5:c.774C=	ENSP00000434151.1:p.Cys258=
ENST00000531005.5:n.1768C=
ENST00000531972.5:c.774C=	ENSP00000435295.1:p.Cys258=
ENST00000532084.5:n.200C=
NM_016938.4:c.774C=	NP_058634.4:p.Cys258=
NR_037718.1:n.1033C=
NM_016938.5:c.774C= MANE Select	NP_058634.4:p.Cys258=
NR_037718.2:n.899C=