Canonical Allele Identifier: CA1979439531
Gene: EFEMP2 HGNC NCBI
MUS81 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65866961G= , CM000673.2:g.65866961G= GRCh38
NC_000011.9:g.65634432G= , CM000673.1:g.65634432G= GRCh37
NC_000011.8:g.65391008G= NCBI36
NG_012304.2:g.10974C=
NG_053116.1:g.11900G=

Transcript Alleles

HGVS Amino-acid change
ENST00000307998.11:c.1289C= (EFEMP2) MANE Select ENSP00000309953.6:p.Ser430=
ENST00000307998.10:c.1289C= (EFEMP2) ENSP00000309953.6:p.Ser430=
ENST00000524408.1:c.165C= (EFEMP2)
ENST00000525006.1:n.38-296G= (MUS81)
ENST00000526628.5:n.1855C= (EFEMP2)
ENST00000526911.1:c.206+60C= (EFEMP2) ENSP00000436536.1:n.206+60C=
ENST00000527277.5:c.120C= (EFEMP2)
ENST00000528176.5:c.1171-249C= (EFEMP2) ENSP00000434151.1:n.1171-249C=
ENST00000528409.1:n.522C= (EFEMP2)
ENST00000531645.5:c.319-27C= (EFEMP2) ENSP00000436521.1:n.319-27C=
ENST00000531972.5:c.1289C= (EFEMP2) ENSP00000435295.1:p.Ser430=
ENST00000532648.1:n.144C= (EFEMP2)
NM_016938.4:c.1289C= (EFEMP2) NP_058634.4:p.Ser430=
NR_037718.1:n.1548C= (EFEMP2)
NR_146598.1:n.1845-296G= (MUS81)
NM_016938.5:c.1289C= (EFEMP2) MANE Select NP_058634.4:p.Ser430=
NR_037718.2:n.1414C= (EFEMP2)
NR_146598.2:n.1813-296G= (MUS81)