Canonical Allele Identifier: CA381349845

Gene: EFEMP2 MUS81

Linked Data

• MyVariant Identifiers: chr11:g.65634544T>A (hg19) ; chr11:g.65867073T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867073T>A , CM000673.2:g.65867073T>A	GRCh38
NC_000011.9:g.65634544T>A , CM000673.1:g.65634544T>A	GRCh37
NC_000011.8:g.65391120T>A	NCBI36
NG_012304.2:g.10862A>T
NG_053116.1:g.12012T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1177A>T (EFEMP2) MANE Select	ENSP00000309953.6:p.Asn393Tyr
ENST00000307998.10:c.1177A>T (EFEMP2)	ENSP00000309953.6:p.Asn393Tyr
ENST00000524408.1:c.53A>T (EFEMP2)
ENST00000525006.1:n.38-184T>A (MUS81)
ENST00000526628.5:n.1743A>T (EFEMP2)
ENST00000526911.1:c.154A>T (EFEMP2)	ENSP00000436536.1:p.Asn52Tyr
ENST00000527277.5:c.8A>T (EFEMP2)
ENST00000528176.5:c.1171-361A>T (EFEMP2)	ENSP00000434151.1:n.1171-361A>T
ENST00000528409.1:n.410A>T (EFEMP2)
ENST00000530806.5:c.136A>T (EFEMP2)	ENSP00000436526.1:p.Asn46Tyr
ENST00000531645.5:c.319-139A>T (EFEMP2)	ENSP00000436521.1:n.319-139A>T
ENST00000531972.5:c.1177A>T (EFEMP2)	ENSP00000435295.1:p.Asn393Tyr
ENST00000532648.1:n.32A>T (EFEMP2)
NM_016938.4:c.1177A>T (EFEMP2)	NP_058634.4:p.Asn393Tyr
NR_037718.1:n.1436A>T (EFEMP2)
NR_146598.1:n.1845-184T>A (MUS81)
NM_016938.5:c.1177A>T (EFEMP2) MANE Select	NP_058634.4:p.Asn393Tyr
NR_037718.2:n.1302A>T (EFEMP2)
NR_146598.2:n.1813-184T>A (MUS81)