Linked Data
ClinVar Variation Id:
304552
dbSNP Id:
rs140519815
ExAC:
11:36614624 A / G
gnomAD v2:
11-36614624-A-G
gnomAD v3:
11-36593074-A-G
gnomAD v4:
11-36593074-A-G
ERepo:
CA5950474/MONDO:0000573/124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593074A>G , CM000673.2:g.36593074A>G | GRCh38 |
| NC_000011.9:g.36614624A>G , CM000673.1:g.36614624A>G | GRCh37 |
| NC_000011.8:g.36571200A>G | NCBI36 |
| NG_007573.1:g.10163T>C , LRG_99:g.10163T>C | |
| NG_033154.1:g.3582A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.1095T>C (RAG2) | ENSP00000436895.2:p.Ser365= | |
| ENST00000529083.2:c.1095T>C (RAG2) | ENSP00000436327.2:p.Ser365= | |
| ENST00000532616.2:c.1095T>C (RAG2) | ENSP00000432174.2:p.Ser365= | |
| ENST00000311485.8:c.1095T>C (RAG2) MANE Select | ENSP00000308620.4:p.Ser365= | |
| ENST00000311485.7:c.1095T>C (RAG2) | ENSP00000308620.3:p.Ser365= | |
| ENST00000524423.1:n.131+5028T>C (RAG2) | ||
| ENST00000534663.1:c.*193A>G (RAG1) | ENSP00000434610.1:n.*193A>G | |
| ENST00000618712.4:c.1095T>C (RAG2) | ENSP00000478672.1:p.Ser365= | |
| NM_000536.3:c.1095T>C (RAG2) | NP_000527.2:p.Ser365= | |
| NM_001243785.1:c.1095T>C (RAG2) | NP_001230714.1:p.Ser365= | |
| NM_001243786.1:c.1095T>C (RAG2) | NP_001230715.1:p.Ser365= | |
| NM_000536.4:c.1095T>C (RAG2) MANE Select | NP_000527.2:p.Ser365= | |
| NM_001243785.2:c.1095T>C (RAG2) | NP_001230714.1:p.Ser365= | |
| NM_001243786.2:c.1095T>C (RAG2) | NP_001230715.1:p.Ser365= |