Canonical Allele Identifier: CA281918
Gene: EFEMP2 HGNC NCBI
MUS81 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39009
dbSNP Id: rs193302868

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65867061C>T , CM000673.2:g.65867061C>T GRCh38
NC_000011.9:g.65634532C>T , CM000673.1:g.65634532C>T GRCh37
NC_000011.8:g.65391108C>T NCBI36
NG_012304.2:g.10874G>A
NG_053116.1:g.12000C>T

Transcript Alleles

HGVS Amino-acid change
NM_016938.4:c.1189G>A (EFEMP2) VV NP_058634.4:p.Ala397Thr
NR_037718.1:n.1448G>A (EFEMP2)
NR_146598.1:n.1845-196C>T (MUS81)
ENST00000307998.10:c.1189G>A ENSP00000309953.6:p.Ala397Thr
ENST00000524408.1:n.65G>A
ENST00000525006.1:n.38-196C>T
ENST00000526628.5:n.1755G>A
ENST00000526911.1:n.166G>A ENSP00000436536.1:p.Ala56Thr
ENST00000527277.5:n.20G>A
ENST00000528176.5:c.1171-349G>A ENSP00000434151.1:p.=
ENST00000528409.1:n.422G>A
ENST00000530806.5:c.148G>A ENSP00000436526.1:p.Ala50Thr
ENST00000531645.5:n.319-127G>A ENSP00000436521.1:p.=
ENST00000531972.5:c.1189G>A ENSP00000435295.1:p.Ala397Thr
ENST00000532648.1:n.44G>A