Canonical Allele Identifier: CA1979444608

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868541A= , CM000673.2:g.65868541A=	GRCh38
NC_000011.9:g.65636012A= , CM000673.1:g.65636012A=	GRCh37
NC_000011.8:g.65392588A=	NCBI36
NG_012304.2:g.9394T=
NG_053116.1:g.13480A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.816T= MANE Select	ENSP00000309953.6:p.Gly272=
ENST00000307998.10:c.816T=	ENSP00000309953.6:p.Gly272=
ENST00000526628.5:n.1382T=
ENST00000527969.1:n.1501T=
ENST00000528176.5:c.816T=	ENSP00000434151.1:p.Gly272=
ENST00000531005.5:n.1810T=
ENST00000531972.5:c.816T=	ENSP00000435295.1:p.Gly272=
ENST00000532084.5:n.242T=
NM_016938.4:c.816T=	NP_058634.4:p.Gly272=
NR_037718.1:n.1075T=
NM_016938.5:c.816T= MANE Select	NP_058634.4:p.Gly272=
NR_037718.2:n.941T=