Canonical Allele Identifier: CA1979439952
Gene: EFEMP2 HGNC NCBI
MUS81 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65867067C= , CM000673.2:g.65867067C= GRCh38
NC_000011.9:g.65634538C= , CM000673.1:g.65634538C= GRCh37
NC_000011.8:g.65391114C= NCBI36
NG_012304.2:g.10868G=
NG_053116.1:g.12006C=

Transcript Alleles

HGVS Amino-acid change
ENST00000307998.11:c.1183G= (EFEMP2) MANE Select ENSP00000309953.6:p.Val395=
ENST00000307998.10:c.1183G= (EFEMP2) ENSP00000309953.6:p.Val395=
ENST00000524408.1:c.59G= (EFEMP2)
ENST00000525006.1:n.38-190C= (MUS81)
ENST00000526628.5:n.1749G= (EFEMP2)
ENST00000526911.1:c.160G= (EFEMP2) ENSP00000436536.1:p.Val54=
ENST00000527277.5:c.14G= (EFEMP2)
ENST00000528176.5:c.1171-355G= (EFEMP2) ENSP00000434151.1:n.1171-355G=
ENST00000528409.1:n.416G= (EFEMP2)
ENST00000530806.5:c.142G= (EFEMP2) ENSP00000436526.1:p.Val48=
ENST00000531645.5:c.319-133G= (EFEMP2) ENSP00000436521.1:n.319-133G=
ENST00000531972.5:c.1183G= (EFEMP2) ENSP00000435295.1:p.Val395=
ENST00000532648.1:n.38G= (EFEMP2)
NM_016938.4:c.1183G= (EFEMP2) NP_058634.4:p.Val395=
NR_037718.1:n.1442G= (EFEMP2)
NR_146598.1:n.1845-190C= (MUS81)
NM_016938.5:c.1183G= (EFEMP2) MANE Select NP_058634.4:p.Val395=
NR_037718.2:n.1308G= (EFEMP2)
NR_146598.2:n.1813-190C= (MUS81)