Canonical Allele Identifier: CA1979444626

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868553G= , CM000673.2:g.65868553G=	GRCh38
NC_000011.9:g.65636024G= , CM000673.1:g.65636024G=	GRCh37
NC_000011.8:g.65392600G=	NCBI36
NG_012304.2:g.9382C=
NG_053116.1:g.13492G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.804C= MANE Select	ENSP00000309953.6:p.His268=
ENST00000307998.10:c.804C=	ENSP00000309953.6:p.His268=
ENST00000526628.5:n.1370C=
ENST00000527969.1:n.1489C=
ENST00000528176.5:c.804C=	ENSP00000434151.1:p.His268=
ENST00000531005.5:n.1798C=
ENST00000531972.5:c.804C=	ENSP00000435295.1:p.His268=
ENST00000532084.5:n.230C=
NM_016938.4:c.804C=	NP_058634.4:p.His268=
NR_037718.1:n.1063C=
NM_016938.5:c.804C= MANE Select	NP_058634.4:p.His268=
NR_037718.2:n.929C=