Canonical Allele Identifier: CA1979444787

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868584C= , CM000673.2:g.65868584C=	GRCh38
NC_000011.9:g.65636055C= , CM000673.1:g.65636055C=	GRCh37
NC_000011.8:g.65392631C=	NCBI36
NG_012304.2:g.9351G=
NG_053116.1:g.13523C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.773G= MANE Select	ENSP00000309953.6:p.Cys258=
ENST00000307998.10:c.773G=	ENSP00000309953.6:p.Cys258=
ENST00000526628.5:n.1339G=
ENST00000527969.1:n.1458G=
ENST00000528176.5:c.773G=	ENSP00000434151.1:p.Cys258=
ENST00000531005.5:n.1767G=
ENST00000531972.5:c.773G=	ENSP00000435295.1:p.Cys258=
ENST00000532084.5:n.199G=
NM_016938.4:c.773G=	NP_058634.4:p.Cys258=
NR_037718.1:n.1032G=
NM_016938.5:c.773G= MANE Select	NP_058634.4:p.Cys258=
NR_037718.2:n.898G=