Canonical Allele Identifier: CA163955
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.132642261G>A
GRCh38 chr5:g.132642261_132642280delinsATTCTGAATATGTGGAGAAA
GRCh37 chr5:g.131977953G>A
GRCh37 chr5:g.131977953_131977972delinsATTCTGAATATGTGGAGAAA
Revel Score:
ENST00000378823 (MANE Select) 0.248
ENST00000265335 0.248
gnomAD v2:
5:131977953 G / A
gnomAD v3:
5:132642261 G / A
gnomAD v4:
chr5-132642261-G-A
Joint Max Group AF 0.00015877 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00016118 (NFE)
ClinVar RCV:
RCV000129203
RCV000765811
ClinVar Variation:
140931
dbSNP:
375710541
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642261G>A , CM000667.2:g.132642261G>A GRCh38
NC_000005.9:g.131977953G>A , CM000667.1:g.131977953G>A GRCh37
NC_000005.8:g.132005852G>A NCBI36
NG_021151.1:g.90338G>A
NG_021151.2:g.90285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3836G>A (RAD50) MANE Select ENSP00000368100.4:p.Arg1279His
ENST00000638452.2:c.3539G>A ENSP00000492349.2:p.Arg1180His
ENST00000638504.1:n.3444G>A
ENST00000638568.2:c.3539G>A ENSP00000491158.2:p.Arg1180His
ENST00000639899.1:n.4355G>A
ENST00000640655.2:c.3539G>A ENSP00000491596.2:p.Arg1180His
ENST00000651249.1:c.672G>A (RAD50)
ENST00000378823.7:c.3836G>A (RAD50) ENSP00000368100.4:p.Arg1279His
ENST00000455677.1:c.388-744G>A (RAD50)
ENST00000533482.5:c.*3462G>A (RAD50) ENSP00000431225.1:n.*3462G>A
NM_005732.3:c.3836G>A (RAD50) NP_005723.2:p.Arg1279His
NR_132125.1:n.126C>T (TH2LCRR)
NR_132126.1:n.175-3996C>T (TH2LCRR)
NM_005732.4:c.3836G>A (RAD50) MANE Select NP_005723.2:p.Arg1279His
Search 100 bp 5'
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