Canonical Allele Identifier: CA475296551

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638820G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871349G>A , CM000673.2:g.65871349G>A	GRCh38
NC_000011.9:g.65638820G>A , CM000673.1:g.65638820G>A	GRCh37
NC_000011.8:g.65395396G>A	NCBI36
NG_012304.2:g.6586C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.175C>T MANE Select	ENSP00000309953.6:p.Leu59=
ENST00000307998.10:c.175C>T	ENSP00000309953.6:p.Leu59=
ENST00000526624.5:c.175C>T	ENSP00000435419.1:p.Leu59=
ENST00000527378.1:c.175C>T	ENSP00000435963.1:p.Leu59=
ENST00000528176.5:c.175C>T	ENSP00000434151.1:p.Leu59=
ENST00000530850.1:c.164C>T	ENSP00000437238.1:p.Ser55Phe
ENST00000531005.5:n.671C>T
ENST00000531972.5:c.175C>T	ENSP00000435295.1:p.Leu59=
ENST00000533347.5:c.221C>T	ENSP00000435823.1:p.Ser74Phe
NM_016938.4:c.175C>T	NP_058634.4:p.Leu59=
NR_037718.1:n.434C>T
NM_016938.5:c.175C>T MANE Select	NP_058634.4:p.Leu59=
NR_037718.2:n.300C>T