Canonical Allele Identifier: CA381310580

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65638819A>T (hg19) ; chr11:g.65871348A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871348A>T , CM000673.2:g.65871348A>T	GRCh38
NC_000011.9:g.65638819A>T , CM000673.1:g.65638819A>T	GRCh37
NC_000011.8:g.65395395A>T	NCBI36
NG_012304.2:g.6587T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.176T>A MANE Select	ENSP00000309953.6:p.Leu59Gln
ENST00000307998.10:c.176T>A	ENSP00000309953.6:p.Leu59Gln
ENST00000526624.5:c.176T>A	ENSP00000435419.1:p.Leu59Gln
ENST00000527378.1:c.176T>A	ENSP00000435963.1:p.Leu59Gln
ENST00000528176.5:c.176T>A	ENSP00000434151.1:p.Leu59Gln
ENST00000530850.1:c.165T>A	ENSP00000437238.1:p.Ser55=
ENST00000531005.5:n.672T>A
ENST00000531972.5:c.176T>A	ENSP00000435295.1:p.Leu59Gln
ENST00000533347.5:c.222T>A	ENSP00000435823.1:p.Ser74=
NM_016938.4:c.176T>A	NP_058634.4:p.Leu59Gln
NR_037718.1:n.435T>A
NM_016938.5:c.176T>A MANE Select	NP_058634.4:p.Leu59Gln
NR_037718.2:n.301T>A