Canonical Allele Identifier: CA2520147801
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132641372G>A , CM000667.2:g.132641372G>A GRCh38
NC_000005.9:g.131977064G>A , CM000667.1:g.131977064G>A GRCh37
NC_000005.8:g.132004963G>A NCBI36
NG_021151.1:g.89449G>A
NG_021151.2:g.89396G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3752+567G>A (RAD50) MANE Select ENSP00000368100.4:n.3752+567G>A
ENST00000638452.2:c.3455+567G>A ENSP00000492349.2:n.3455+567G>A
ENST00000638504.1:n.3360+567G>A
ENST00000638568.2:c.3455+567G>A ENSP00000491158.2:n.3455+567G>A
ENST00000639899.1:n.4271+567G>A
ENST00000640655.2:c.3455+567G>A ENSP00000491596.2:n.3455+567G>A
ENST00000651249.1:c.588+567G>A (RAD50)
ENST00000378823.7:c.3752+567G>A (RAD50) ENSP00000368100.4:n.3752+567G>A
ENST00000455677.1:c.387+567G>A (RAD50)
ENST00000533482.5:c.*3378+567G>A (RAD50) ENSP00000431225.1:n.*3378+567G>A
NM_005732.3:c.3752+567G>A (RAD50) NP_005723.2:n.3752+567G>A
NR_132124.1:n.45+374C>T (TH2LCRR)
NR_132125.1:n.189+826C>T (TH2LCRR)
NR_132126.1:n.175-3107C>T (TH2LCRR)
XR_427771.1:n.426+374C>T (TH2LCRR)
NM_005732.4:c.3752+567G>A (RAD50) MANE Select NP_005723.2:n.3752+567G>A