Canonical Allele Identifier: CA1979444797

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868586G= , CM000673.2:g.65868586G=	GRCh38
NC_000011.9:g.65636057G= , CM000673.1:g.65636057G=	GRCh37
NC_000011.8:g.65392633G=	NCBI36
NG_012304.2:g.9349C=
NG_053116.1:g.13525G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.771C= MANE Select	ENSP00000309953.6:p.Arg257=
ENST00000307998.10:c.771C=	ENSP00000309953.6:p.Arg257=
ENST00000526628.5:n.1337C=
ENST00000527969.1:n.1456C=
ENST00000528176.5:c.771C=	ENSP00000434151.1:p.Arg257=
ENST00000531005.5:n.1765C=
ENST00000531972.5:c.771C=	ENSP00000435295.1:p.Arg257=
ENST00000532084.5:n.197C=
NM_016938.4:c.771C=	NP_058634.4:p.Arg257=
NR_037718.1:n.1030C=
NM_016938.5:c.771C= MANE Select	NP_058634.4:p.Arg257=
NR_037718.2:n.896C=