Canonical Allele Identifier: CA381349731
Gene: EFEMP2 HGNC NCBI
MUS81 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65867064T>C , CM000673.2:g.65867064T>C GRCh38
NC_000011.9:g.65634535T>C , CM000673.1:g.65634535T>C GRCh37
NC_000011.8:g.65391111T>C NCBI36
NG_012304.2:g.10871A>G
NG_053116.1:g.12003T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307998.11:c.1186A>G (EFEMP2) MANE Select ENSP00000309953.6:p.Ser396Gly
ENST00000307998.10:c.1186A>G (EFEMP2) ENSP00000309953.6:p.Ser396Gly
ENST00000524408.1:c.62A>G (EFEMP2)
ENST00000525006.1:n.38-193T>C (MUS81)
ENST00000526628.5:n.1752A>G (EFEMP2)
ENST00000526911.1:c.163A>G (EFEMP2) ENSP00000436536.1:p.Ser55Gly
ENST00000527277.5:c.17A>G (EFEMP2)
ENST00000528176.5:c.1171-352A>G (EFEMP2) ENSP00000434151.1:n.1171-352A>G
ENST00000528409.1:n.419A>G (EFEMP2)
ENST00000530806.5:c.145A>G (EFEMP2) ENSP00000436526.1:p.Ser49Gly
ENST00000531645.5:c.319-130A>G (EFEMP2) ENSP00000436521.1:n.319-130A>G
ENST00000531972.5:c.1186A>G (EFEMP2) ENSP00000435295.1:p.Ser396Gly
ENST00000532648.1:n.41A>G (EFEMP2)
NM_016938.4:c.1186A>G (EFEMP2) NP_058634.4:p.Ser396Gly
NR_037718.1:n.1445A>G (EFEMP2)
NR_146598.1:n.1845-193T>C (MUS81)
NM_016938.5:c.1186A>G (EFEMP2) MANE Select NP_058634.4:p.Ser396Gly
NR_037718.2:n.1311A>G (EFEMP2)
NR_146598.2:n.1813-193T>C (MUS81)