Canonical Allele Identifier: CA1583254581
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642204G= , CM000667.2:g.132642204G= GRCh38
NC_000005.9:g.131977896G= , CM000667.1:g.131977896G= GRCh37
NC_000005.8:g.132005795G= NCBI36
NG_021151.1:g.90281G=
NG_021151.2:g.90228G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3779G= (RAD50) MANE Select ENSP00000368100.4:p.Arg1260=
ENST00000638452.2:c.3482G= ENSP00000492349.2:p.Arg1161=
ENST00000638504.1:n.3387G=
ENST00000638568.2:c.3482G= ENSP00000491158.2:p.Arg1161=
ENST00000639899.1:n.4298G=
ENST00000640655.2:c.3482G= ENSP00000491596.2:p.Arg1161=
ENST00000651249.1:c.615G= (RAD50)
ENST00000378823.7:c.3779G= (RAD50) ENSP00000368100.4:p.Arg1260=
ENST00000455677.1:c.388-801G= (RAD50)
ENST00000533482.5:c.*3405G= (RAD50) ENSP00000431225.1:n.*3405G=
NM_005732.3:c.3779G= (RAD50) NP_005723.2:p.Arg1260=
NR_132125.1:n.183C= (TH2LCRR)
NR_132126.1:n.175-3939C= (TH2LCRR)
NM_005732.4:c.3779G= (RAD50) MANE Select NP_005723.2:p.Arg1260=