Canonical Allele Identifier: CA1979442879

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870552G= , CM000673.2:g.65870552G=	GRCh38
NC_000011.9:g.65638023G= , CM000673.1:g.65638023G=	GRCh37
NC_000011.8:g.65394599G=	NCBI36
NG_012304.2:g.7383C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.474C= MANE Select	ENSP00000309953.6:p.Ile158=
ENST00000307998.10:c.474C=	ENSP00000309953.6:p.Ile158=
ENST00000526624.5:c.474C=	ENSP00000435419.1:p.Ile158=
ENST00000527378.1:c.474C=	ENSP00000435963.1:p.Ile158=
ENST00000527969.1:n.153C=
ENST00000528176.5:c.474C=	ENSP00000434151.1:p.Ile158=
ENST00000530850.1:c.*286C=	ENSP00000437238.1:n.*286C=
ENST00000531005.5:n.1468C=
ENST00000531972.5:c.474C=	ENSP00000435295.1:p.Ile158=
ENST00000533347.5:c.*286C=	ENSP00000435823.1:n.*286C=
NM_016938.4:c.474C=	NP_058634.4:p.Ile158=
NR_037718.1:n.733C=
NM_016938.5:c.474C= MANE Select	NP_058634.4:p.Ile158=
NR_037718.2:n.599C=