Canonical Allele Identifier: CA12063745
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2237060

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132635193T>G , CM000667.2:g.132635193T>G GRCh38
NC_000005.9:g.131970885T>G , CM000667.1:g.131970885T>G GRCh37
NC_000005.8:g.131998784T>G NCBI36
NG_021151.1:g.83270T>G

Transcript Alleles

HGVS Amino-acid change
NM_005732.3:c.3390-1922T>G (RAD50) VV NP_005723.2:p.=
NR_132124.1:n.153+2965A>C (TH2LCRR)
ENST00000378823.7:c.3390-1922T>G ENSP00000368100.4:p.=
ENST00000455677.1:n.25-1922T>G
ENST00000533482.5:c.*3016-1922T>G ENSP00000431225.1:p.=