Canonical Allele Identifier: CA1979444939

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868621C= , CM000673.2:g.65868621C=	GRCh38
NC_000011.9:g.65636092C= , CM000673.1:g.65636092C=	GRCh37
NC_000011.8:g.65392668C=	NCBI36
NG_012304.2:g.9314G=
NG_053116.1:g.13560C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.736G= MANE Select	ENSP00000309953.6:p.Glu246=
ENST00000307998.10:c.736G=	ENSP00000309953.6:p.Glu246=
ENST00000526628.5:n.1302G=
ENST00000527969.1:n.1421G=
ENST00000528176.5:c.736G=	ENSP00000434151.1:p.Glu246=
ENST00000531005.5:n.1730G=
ENST00000531972.5:c.736G=	ENSP00000435295.1:p.Glu246=
ENST00000532084.5:n.162G=
NM_016938.4:c.736G=	NP_058634.4:p.Glu246=
NR_037718.1:n.995G=
NM_016938.5:c.736G= MANE Select	NP_058634.4:p.Glu246=
NR_037718.2:n.861G=