Linked Data
ClinVar Variation Id:
496633
dbSNP Id:
rs757913323
ExAC:
11:36614298 T / C
gnomAD v2:
11-36614298-T-C
gnomAD v3:
11-36592748-T-C
gnomAD v4:
11-36592748-T-C
ERepo:
CA5950417/MONDO:0000573/124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36592748T>C , CM000673.2:g.36592748T>C | GRCh38 |
| NC_000011.9:g.36614298T>C , CM000673.1:g.36614298T>C | GRCh37 |
| NC_000011.8:g.36570874T>C | NCBI36 |
| NG_007573.1:g.10489A>G , LRG_99:g.10489A>G | |
| NG_033154.1:g.3256T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.1421A>G (RAG2) | ENSP00000436895.2:p.Asn474Ser | |
| ENST00000529083.2:c.1421A>G (RAG2) | ENSP00000436327.2:p.Asn474Ser | |
| ENST00000532616.2:c.1421A>G (RAG2) | ENSP00000432174.2:p.Asn474Ser | |
| ENST00000311485.8:c.1421A>G (RAG2) MANE Select | ENSP00000308620.4:p.Asn474Ser | |
| ENST00000311485.7:c.1421A>G (RAG2) | ENSP00000308620.3:p.Asn474Ser | |
| ENST00000524423.1:n.131+5354A>G (RAG2) | ||
| ENST00000534663.1:c.*86-219T>C (RAG1) | ENSP00000434610.1:n.*86-219T>C | |
| ENST00000618712.4:c.1421A>G (RAG2) | ENSP00000478672.1:p.Asn474Ser | |
| NM_000536.3:c.1421A>G (RAG2) | NP_000527.2:p.Asn474Ser | |
| NM_001243785.1:c.1421A>G (RAG2) | NP_001230714.1:p.Asn474Ser | |
| NM_001243786.1:c.1421A>G (RAG2) | NP_001230715.1:p.Asn474Ser | |
| NM_000536.4:c.1421A>G (RAG2) MANE Select | NP_000527.2:p.Asn474Ser | |
| NM_001243785.2:c.1421A>G (RAG2) | NP_001230714.1:p.Asn474Ser | |
| NM_001243786.2:c.1421A>G (RAG2) | NP_001230715.1:p.Asn474Ser |