Canonical Allele Identifier: CA1979443917

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868342G= , CM000673.2:g.65868342G=	GRCh38
NC_000011.9:g.65635813G= , CM000673.1:g.65635813G=	GRCh37
NC_000011.8:g.65392389G=	NCBI36
NG_012304.2:g.9593C=
NG_053116.1:g.13281G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.927C= MANE Select	ENSP00000309953.6:p.Cys309=
ENST00000307998.10:c.927C=	ENSP00000309953.6:p.Cys309=
ENST00000525392.1:n.88C=
ENST00000526628.5:n.1493C=
ENST00000528176.5:c.927C=	ENSP00000434151.1:p.Cys309=
ENST00000528409.1:n.171C=
ENST00000530806.5:c.-72C=	ENSP00000436526.1:n.-72C=
ENST00000531005.5:n.1921C=
ENST00000531645.5:c.75C=	ENSP00000436521.1:p.Cys25=
ENST00000531972.5:c.927C=	ENSP00000435295.1:p.Cys309=
ENST00000532084.5:n.353C=
NM_016938.4:c.927C=	NP_058634.4:p.Cys309=
NR_037718.1:n.1186C=
NM_016938.5:c.927C= MANE Select	NP_058634.4:p.Cys309=
NR_037718.2:n.1052C=