Canonical Allele Identifier: CA381349819
Gene: EFEMP2 HGNC NCBI
MUS81 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65867070T>C , CM000673.2:g.65867070T>C GRCh38
NC_000011.9:g.65634541T>C , CM000673.1:g.65634541T>C GRCh37
NC_000011.8:g.65391117T>C NCBI36
NG_012304.2:g.10865A>G
NG_053116.1:g.12009T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307998.11:c.1180A>G (EFEMP2) MANE Select ENSP00000309953.6:p.Asn394Asp
ENST00000307998.10:c.1180A>G (EFEMP2) ENSP00000309953.6:p.Asn394Asp
ENST00000524408.1:c.56A>G (EFEMP2)
ENST00000525006.1:n.38-187T>C (MUS81)
ENST00000526628.5:n.1746A>G (EFEMP2)
ENST00000526911.1:c.157A>G (EFEMP2) ENSP00000436536.1:p.Asn53Asp
ENST00000527277.5:c.11A>G (EFEMP2)
ENST00000528176.5:c.1171-358A>G (EFEMP2) ENSP00000434151.1:n.1171-358A>G
ENST00000528409.1:n.413A>G (EFEMP2)
ENST00000530806.5:c.139A>G (EFEMP2) ENSP00000436526.1:p.Asn47Asp
ENST00000531645.5:c.319-136A>G (EFEMP2) ENSP00000436521.1:n.319-136A>G
ENST00000531972.5:c.1180A>G (EFEMP2) ENSP00000435295.1:p.Asn394Asp
ENST00000532648.1:n.35A>G (EFEMP2)
NM_016938.4:c.1180A>G (EFEMP2) NP_058634.4:p.Asn394Asp
NR_037718.1:n.1439A>G (EFEMP2)
NR_146598.1:n.1845-187T>C (MUS81)
NM_016938.5:c.1180A>G (EFEMP2) MANE Select NP_058634.4:p.Asn394Asp
NR_037718.2:n.1305A>G (EFEMP2)
NR_146598.2:n.1813-187T>C (MUS81)