Canonical Allele Identifier: CA381349758

Gene: EFEMP2 MUS81

Linked Data

• ClinVar Variation Id: 2312769
• ClinVar RCV Id: RCV002887964
• MyVariant Identifiers: chr11:g.65634537A>G (hg19) ; chr11:g.65867066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867066A>G , CM000673.2:g.65867066A>G	GRCh38
NC_000011.9:g.65634537A>G , CM000673.1:g.65634537A>G	GRCh37
NC_000011.8:g.65391113A>G	NCBI36
NG_012304.2:g.10869T>C
NG_053116.1:g.12005A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1184T>C (EFEMP2) MANE Select	ENSP00000309953.6:p.Val395Ala
ENST00000307998.10:c.1184T>C (EFEMP2)	ENSP00000309953.6:p.Val395Ala
ENST00000524408.1:c.60T>C (EFEMP2)
ENST00000525006.1:n.38-191A>G (MUS81)
ENST00000526628.5:n.1750T>C (EFEMP2)
ENST00000526911.1:c.161T>C (EFEMP2)	ENSP00000436536.1:p.Val54Ala
ENST00000527277.5:c.15T>C (EFEMP2)
ENST00000528176.5:c.1171-354T>C (EFEMP2)	ENSP00000434151.1:n.1171-354T>C
ENST00000528409.1:n.417T>C (EFEMP2)
ENST00000530806.5:c.143T>C (EFEMP2)	ENSP00000436526.1:p.Val48Ala
ENST00000531645.5:c.319-132T>C (EFEMP2)	ENSP00000436521.1:n.319-132T>C
ENST00000531972.5:c.1184T>C (EFEMP2)	ENSP00000435295.1:p.Val395Ala
ENST00000532648.1:n.39T>C (EFEMP2)
NM_016938.4:c.1184T>C (EFEMP2)	NP_058634.4:p.Val395Ala
NR_037718.1:n.1443T>C (EFEMP2)
NR_146598.1:n.1845-191A>G (MUS81)
NM_016938.5:c.1184T>C (EFEMP2) MANE Select	NP_058634.4:p.Val395Ala
NR_037718.2:n.1309T>C (EFEMP2)
NR_146598.2:n.1813-191A>G (MUS81)