Canonical Allele Identifier: CA1979444916

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868617C= , CM000673.2:g.65868617C=	GRCh38
NC_000011.9:g.65636088C= , CM000673.1:g.65636088C=	GRCh37
NC_000011.8:g.65392664C=	NCBI36
NG_012304.2:g.9318G=
NG_053116.1:g.13556C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.740G= MANE Select	ENSP00000309953.6:p.Cys247=
ENST00000307998.10:c.740G=	ENSP00000309953.6:p.Cys247=
ENST00000526628.5:n.1306G=
ENST00000527969.1:n.1425G=
ENST00000528176.5:c.740G=	ENSP00000434151.1:p.Cys247=
ENST00000531005.5:n.1734G=
ENST00000531972.5:c.740G=	ENSP00000435295.1:p.Cys247=
ENST00000532084.5:n.166G=
NM_016938.4:c.740G=	NP_058634.4:p.Cys247=
NR_037718.1:n.999G=
NM_016938.5:c.740G= MANE Select	NP_058634.4:p.Cys247=
NR_037718.2:n.865G=