ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
recombinase activating gene 2 deficiency
COSMIC:
Revel Score:
ENST00000311485 (MANE Select)
0.952
ENST00000529083
0.952
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003856 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00003977 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593952G>A , CM000673.2:g.36593952G>A | GRCh38 |
| NC_000011.9:g.36615502G>A , CM000673.1:g.36615502G>A | GRCh37 |
| NC_000011.8:g.36572078G>A | NCBI36 |
| NG_007573.1:g.9285C>T , LRG_99:g.9285C>T | |
| NG_033154.1:g.4460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.217C>T | ENSP00000436895.2:p.Arg73Cys | |
| ENST00000529083.2:c.217C>T | ENSP00000436327.2:p.Arg73Cys | |
| ENST00000532616.2:c.217C>T | ENSP00000432174.2:p.Arg73Cys | |
| ENST00000311485.8:c.217C>T MANE Select | ENSP00000308620.4:p.Arg73Cys | |
| ENST00000311485.7:c.217C>T | ENSP00000308620.3:p.Arg73Cys | |
| ENST00000524423.1:n.131+4150C>T | ||
| ENST00000529083.1:c.217C>T | ENSP00000436327.1:p.Arg73Cys | |
| ENST00000618712.4:c.217C>T | ENSP00000478672.1:p.Arg73Cys | |
| NM_000536.3:c.217C>T | NP_000527.2:p.Arg73Cys | |
| NM_001243785.1:c.217C>T | NP_001230714.1:p.Arg73Cys | |
| NM_001243786.1:c.217C>T | NP_001230715.1:p.Arg73Cys | |
| NM_000536.4:c.217C>T MANE Select | NP_000527.2:p.Arg73Cys | |
| NM_001243785.2:c.217C>T | NP_001230714.1:p.Arg73Cys | |
| NM_001243786.2:c.217C>T | NP_001230715.1:p.Arg73Cys |