Canonical Allele Identifier: CA1979445066

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871355C= , CM000673.2:g.65871355C=	GRCh38
NC_000011.9:g.65638826C= , CM000673.1:g.65638826C=	GRCh37
NC_000011.8:g.65395402C=	NCBI36
NG_012304.2:g.6580G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.169G= MANE Select	ENSP00000309953.6:p.Glu57=
ENST00000307998.10:c.169G=	ENSP00000309953.6:p.Glu57=
ENST00000526624.5:c.169G=	ENSP00000435419.1:p.Glu57=
ENST00000527378.1:c.169G=	ENSP00000435963.1:p.Glu57=
ENST00000528176.5:c.169G=	ENSP00000434151.1:p.Glu57=
ENST00000530850.1:c.158G=	ENSP00000437238.1:p.Arg53=
ENST00000531005.5:n.665G=
ENST00000531972.5:c.169G=	ENSP00000435295.1:p.Glu57=
ENST00000533347.5:c.215G=	ENSP00000435823.1:p.Arg72=
NM_016938.4:c.169G=	NP_058634.4:p.Glu57=
NR_037718.1:n.428G=
NM_016938.5:c.169G= MANE Select	NP_058634.4:p.Glu57=
NR_037718.2:n.294G=