Canonical Allele Identifier: CA281758

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 39016
• ClinVar RCV Id: RCV000023384 ; RCV000032274
• dbSNP Id: rs193302866
• MyVariant Identifiers: chr11:g.65636028C>T (hg19) ; chr11:g.65868557C>T (hg38)
• PubMed: PMID:19664000 ; PMID:20389311 ; PMID:21563328

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868557C>T , CM000673.2:g.65868557C>T	GRCh38
NC_000011.9:g.65636028C>T , CM000673.1:g.65636028C>T	GRCh37
NC_000011.8:g.65392604C>T	NCBI36
NG_012304.2:g.9378G>A
NG_053116.1:g.13496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.800G>A MANE Select	ENSP00000309953.6:p.Cys267Tyr
ENST00000307998.10:c.800G>A	ENSP00000309953.6:p.Cys267Tyr
ENST00000526628.5:n.1366G>A
ENST00000527969.1:n.1485G>A
ENST00000528176.5:c.800G>A	ENSP00000434151.1:p.Cys267Tyr
ENST00000531005.5:n.1794G>A
ENST00000531972.5:c.800G>A	ENSP00000435295.1:p.Cys267Tyr
ENST00000532084.5:n.226G>A
NM_016938.4:c.800G>A	NP_058634.4:p.Cys267Tyr
NR_037718.1:n.1059G>A
NM_016938.5:c.800G>A MANE Select	NP_058634.4:p.Cys267Tyr
NR_037718.2:n.925G>A