ClinGen Evidence Repository:
Classification
Pathogenic
Condition
recombinase activating gene 2 deficiency
Revel Score:
ENST00000311485 (MANE Select)
0.956
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001533 (NFE)
Genomes Max Group AF
0.00001917 (AFR)
Exomes Max Group AF
0.00001543 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593483C>T , CM000673.2:g.36593483C>T | GRCh38 |
| NC_000011.9:g.36615033C>T , CM000673.1:g.36615033C>T | GRCh37 |
| NC_000011.8:g.36571609C>T | NCBI36 |
| NG_007573.1:g.9754G>A , LRG_99:g.9754G>A | |
| NG_033154.1:g.3991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.686G>A | ENSP00000436895.2:p.Arg229Gln | |
| ENST00000529083.2:c.686G>A | ENSP00000436327.2:p.Arg229Gln | |
| ENST00000532616.2:c.686G>A | ENSP00000432174.2:p.Arg229Gln | |
| ENST00000311485.8:c.686G>A MANE Select | ENSP00000308620.4:p.Arg229Gln | |
| ENST00000311485.7:c.686G>A | ENSP00000308620.3:p.Arg229Gln | |
| ENST00000524423.1:n.131+4619G>A | ||
| ENST00000618712.4:c.686G>A | ENSP00000478672.1:p.Arg229Gln | |
| NM_000536.3:c.686G>A | NP_000527.2:p.Arg229Gln | |
| NM_001243785.1:c.686G>A | NP_001230714.1:p.Arg229Gln | |
| NM_001243786.1:c.686G>A | NP_001230715.1:p.Arg229Gln | |
| NM_000536.4:c.686G>A MANE Select | NP_000527.2:p.Arg229Gln | |
| NM_001243785.2:c.686G>A | NP_001230714.1:p.Arg229Gln | |
| NM_001243786.2:c.686G>A | NP_001230715.1:p.Arg229Gln |