Canonical Allele Identifier: CA381356655

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636027G>C (hg19) ; chr11:g.65868556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868556G>C , CM000673.2:g.65868556G>C	GRCh38
NC_000011.9:g.65636027G>C , CM000673.1:g.65636027G>C	GRCh37
NC_000011.8:g.65392603G>C	NCBI36
NG_012304.2:g.9379C>G
NG_053116.1:g.13495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.801C>G MANE Select	ENSP00000309953.6:p.Cys267Trp
ENST00000307998.10:c.801C>G	ENSP00000309953.6:p.Cys267Trp
ENST00000526628.5:n.1367C>G
ENST00000527969.1:n.1486C>G
ENST00000528176.5:c.801C>G	ENSP00000434151.1:p.Cys267Trp
ENST00000531005.5:n.1795C>G
ENST00000531972.5:c.801C>G	ENSP00000435295.1:p.Cys267Trp
ENST00000532084.5:n.227C>G
NM_016938.4:c.801C>G	NP_058634.4:p.Cys267Trp
NR_037718.1:n.1060C>G
NM_016938.5:c.801C>G MANE Select	NP_058634.4:p.Cys267Trp
NR_037718.2:n.926C>G