Canonical Allele Identifier: CA381353519

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635838A>G (hg19) ; chr11:g.65868367A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868367A>G , CM000673.2:g.65868367A>G	GRCh38
NC_000011.9:g.65635838A>G , CM000673.1:g.65635838A>G	GRCh37
NC_000011.8:g.65392414A>G	NCBI36
NG_012304.2:g.9568T>C
NG_053116.1:g.13306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.902T>C MANE Select	ENSP00000309953.6:p.Val301Ala
ENST00000307998.10:c.902T>C	ENSP00000309953.6:p.Val301Ala
ENST00000525392.1:n.63T>C
ENST00000526628.5:n.1468T>C
ENST00000528176.5:c.902T>C	ENSP00000434151.1:p.Val301Ala
ENST00000528409.1:n.146T>C
ENST00000530806.5:c.-97T>C	ENSP00000436526.1:n.-97T>C
ENST00000531005.5:n.1896T>C
ENST00000531645.5:c.50T>C	ENSP00000436521.1:p.Val17Ala
ENST00000531972.5:c.902T>C	ENSP00000435295.1:p.Val301Ala
ENST00000532084.5:n.328T>C
NM_016938.4:c.902T>C	NP_058634.4:p.Val301Ala
NR_037718.1:n.1161T>C
NM_016938.5:c.902T>C MANE Select	NP_058634.4:p.Val301Ala
NR_037718.2:n.1027T>C