Canonical Allele Identifier: CA260626
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

ClinVar Variation Id: 37384
ClinVar RCV Id: RCV000212928 RCV000160911 RCV000409247 RCV000589524
dbSNP Id: rs28903094
ExAC: 5:131977996 C / T
gnomAD v2: 5-131977996-C-T
gnomAD v3: 5-132642304-C-T
gnomAD v4: 5-132642304-C-T
MyVariant Identifiers: chr5:g.131977996C>T (hg19) chr5:g.132642304C>T (hg38)
PubMed: PMID:16385572 PMID:19638463 PMID:24894818 PMID:26635394 PMID:26787654
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642304C>T , CM000667.2:g.132642304C>T GRCh38
NC_000005.9:g.131977996C>T , CM000667.1:g.131977996C>T GRCh37
NC_000005.8:g.132005895C>T NCBI36
NG_021151.1:g.90381C>T
NG_021151.2:g.90328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3879C>T (RAD50) MANE Select ENSP00000368100.4:p.Ile1293=
ENST00000638452.2:c.3582C>T ENSP00000492349.2:p.Ile1194=
ENST00000638504.1:n.3487C>T
ENST00000638568.2:c.3582C>T ENSP00000491158.2:p.Ile1194=
ENST00000639899.1:n.4398C>T
ENST00000640655.2:c.3582C>T ENSP00000491596.2:p.Ile1194=
ENST00000651249.1:c.715C>T (RAD50)
ENST00000378823.7:c.3879C>T (RAD50) ENSP00000368100.4:p.Ile1293=
ENST00000455677.1:c.388-701C>T (RAD50)
ENST00000533482.5:c.*3505C>T (RAD50) ENSP00000431225.1:n.*3505C>T
NM_005732.3:c.3879C>T (RAD50) NP_005723.2:p.Ile1293=
NR_132125.1:n.105-22G>A (TH2LCRR)
NR_132126.1:n.175-4039G>A (TH2LCRR)
NM_005732.4:c.3879C>T (RAD50) MANE Select NP_005723.2:p.Ile1293=
Search 100 bp 5'
Search 100 bp 3'