Canonical Allele Identifier: CA381349701
Gene: EFEMP2 HGNC NCBI
MUS81 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65867062G>T , CM000673.2:g.65867062G>T GRCh38
NC_000011.9:g.65634533G>T , CM000673.1:g.65634533G>T GRCh37
NC_000011.8:g.65391109G>T NCBI36
NG_012304.2:g.10873C>A
NG_053116.1:g.12001G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307998.11:c.1188C>A (EFEMP2) MANE Select ENSP00000309953.6:p.Ser396Arg
ENST00000307998.10:c.1188C>A (EFEMP2) ENSP00000309953.6:p.Ser396Arg
ENST00000524408.1:c.64C>A (EFEMP2)
ENST00000525006.1:n.38-195G>T (MUS81)
ENST00000526628.5:n.1754C>A (EFEMP2)
ENST00000526911.1:c.165C>A (EFEMP2) ENSP00000436536.1:p.Ser55Arg
ENST00000527277.5:c.19C>A (EFEMP2)
ENST00000528176.5:c.1171-350C>A (EFEMP2) ENSP00000434151.1:n.1171-350C>A
ENST00000528409.1:n.421C>A (EFEMP2)
ENST00000530806.5:c.147C>A (EFEMP2) ENSP00000436526.1:p.Ser49Arg
ENST00000531645.5:c.319-128C>A (EFEMP2) ENSP00000436521.1:n.319-128C>A
ENST00000531972.5:c.1188C>A (EFEMP2) ENSP00000435295.1:p.Ser396Arg
ENST00000532648.1:n.43C>A (EFEMP2)
NM_016938.4:c.1188C>A (EFEMP2) NP_058634.4:p.Ser396Arg
NR_037718.1:n.1447C>A (EFEMP2)
NR_146598.1:n.1845-195G>T (MUS81)
NM_016938.5:c.1188C>A (EFEMP2) MANE Select NP_058634.4:p.Ser396Arg
NR_037718.2:n.1313C>A (EFEMP2)
NR_146598.2:n.1813-195G>T (MUS81)