Canonical Allele Identifier: CA381349365

Gene: EFEMP2 MUS81

Linked Data

• ClinVar Variation Id: 1016757
• ClinVar RCV Id: RCV001315810
• dbSNP Id: rs1859861811
• MyVariant Identifiers: chr11:g.65634501C>A (hg19) ; chr11:g.65867030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867030C>A , CM000673.2:g.65867030C>A	GRCh38
NC_000011.9:g.65634501C>A , CM000673.1:g.65634501C>A	GRCh37
NC_000011.8:g.65391077C>A	NCBI36
NG_012304.2:g.10905G>T
NG_053116.1:g.11969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.1220G>T (EFEMP2) MANE Select	ENSP00000309953.6:p.Gly407Val
ENST00000307998.10:c.1220G>T (EFEMP2)	ENSP00000309953.6:p.Gly407Val
ENST00000524408.1:c.96G>T (EFEMP2)
ENST00000525006.1:n.38-227C>A (MUS81)
ENST00000526628.5:n.1786G>T (EFEMP2)
ENST00000526911.1:c.197G>T (EFEMP2)	ENSP00000436536.1:p.Gly66Val
ENST00000527277.5:c.51G>T (EFEMP2)
ENST00000528176.5:c.1171-318G>T (EFEMP2)	ENSP00000434151.1:n.1171-318G>T
ENST00000528409.1:n.453G>T (EFEMP2)
ENST00000530806.5:c.179G>T (EFEMP2)	ENSP00000436526.1:p.Gly60Val
ENST00000531645.5:c.319-96G>T (EFEMP2)	ENSP00000436521.1:n.319-96G>T
ENST00000531972.5:c.1220G>T (EFEMP2)	ENSP00000435295.1:p.Gly407Val
ENST00000532648.1:n.75G>T (EFEMP2)
NM_016938.4:c.1220G>T (EFEMP2)	NP_058634.4:p.Gly407Val
NR_037718.1:n.1479G>T (EFEMP2)
NR_146598.1:n.1845-227C>A (MUS81)
NM_016938.5:c.1220G>T (EFEMP2) MANE Select	NP_058634.4:p.Gly407Val
NR_037718.2:n.1345G>T (EFEMP2)
NR_146598.2:n.1813-227C>A (MUS81)