Canonical Allele Identifier: CA381352800

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1591065856
• MyVariant Identifiers: chr11:g.65635775A>C (hg19) ; chr11:g.65868304A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868304A>C , CM000673.2:g.65868304A>C	GRCh38
NC_000011.9:g.65635775A>C , CM000673.1:g.65635775A>C	GRCh37
NC_000011.8:g.65392351A>C	NCBI36
NG_012304.2:g.9631T>G
NG_053116.1:g.13243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.965T>G MANE Select	ENSP00000309953.6:p.Val322Gly
ENST00000307998.10:c.965T>G	ENSP00000309953.6:p.Val322Gly
ENST00000525392.1:n.126T>G
ENST00000526628.5:n.1531T>G
ENST00000528176.5:c.965T>G	ENSP00000434151.1:p.Val322Gly
ENST00000528409.1:n.207+2T>G
ENST00000530806.5:c.-34T>G	ENSP00000436526.1:n.-34T>G
ENST00000531005.5:n.1959T>G
ENST00000531645.5:c.113T>G	ENSP00000436521.1:p.Val38Gly
ENST00000531972.5:c.965T>G	ENSP00000435295.1:p.Val322Gly
ENST00000532084.5:n.391T>G
NM_016938.4:c.965T>G	NP_058634.4:p.Val322Gly
NR_037718.1:n.1224T>G
NM_016938.5:c.965T>G MANE Select	NP_058634.4:p.Val322Gly
NR_037718.2:n.1090T>G