Canonical Allele Identifier: CA288213
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.132642214G>C
GRCh37 chr5:g.131977906G>C
Revel Score:
ENST00000378823 (MANE Select) 0.418
ENST00000265335 0.418
gnomAD v2:
5:131977906 G / C
gnomAD v3:
5:132642214 G / C
gnomAD v4:
chr5-132642214-G-C
Joint Max Group AF 0.00007325 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00007509 (NFE)
ClinVar RCV:
RCV000115959
RCV000212926
ClinVar Variation:
128022
dbSNP:
115706334
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642214G>C , CM000667.2:g.132642214G>C GRCh38
NC_000005.9:g.131977906G>C , CM000667.1:g.131977906G>C GRCh37
NC_000005.8:g.132005805G>C NCBI36
NG_021151.1:g.90291G>C
NG_021151.2:g.90238G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3789G>C (RAD50) MANE Select ENSP00000368100.4:p.Gln1263His
ENST00000638452.2:c.3492G>C ENSP00000492349.2:p.Gln1164His
ENST00000638504.1:n.3397G>C
ENST00000638568.2:c.3492G>C ENSP00000491158.2:p.Gln1164His
ENST00000639899.1:n.4308G>C
ENST00000640655.2:c.3492G>C ENSP00000491596.2:p.Gln1164His
ENST00000651249.1:c.625G>C (RAD50)
ENST00000378823.7:c.3789G>C (RAD50) ENSP00000368100.4:p.Gln1263His
ENST00000455677.1:c.388-791G>C (RAD50)
ENST00000533482.5:c.*3415G>C (RAD50) ENSP00000431225.1:n.*3415G>C
NM_005732.3:c.3789G>C (RAD50) NP_005723.2:p.Gln1263His
NR_132125.1:n.173C>G (TH2LCRR)
NR_132126.1:n.175-3949C>G (TH2LCRR)
NM_005732.4:c.3789G>C (RAD50) MANE Select NP_005723.2:p.Gln1263His
Search 100 bp 5'
Search 100 bp 3'