Linked Data
ClinVar Variation Id:
13138
ClinVar RCV Id:
RCV000014020
RCV000521152
RCV000681597
RCV000821298
RCV001027616
RCV001731284
RCV003398501
dbSNP Id:
rs121918575
ExAC:
11:36614367 C / G
gnomAD v2:
11-36614367-C-G
gnomAD v3:
11-36592817-C-G
gnomAD v4:
11-36592817-C-G
ERepo:
CA122872/MONDO:0000573/124
PubMed:
PMID:18463379
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36592817C>G , CM000673.2:g.36592817C>G | GRCh38 |
| NC_000011.9:g.36614367C>G , CM000673.1:g.36614367C>G | GRCh37 |
| NC_000011.8:g.36570943C>G | NCBI36 |
| NG_007573.1:g.10420G>C , LRG_99:g.10420G>C | |
| NG_033154.1:g.3325C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.1352G>C (RAG2) | ENSP00000436895.2:p.Gly451Ala | |
| ENST00000529083.2:c.1352G>C (RAG2) | ENSP00000436327.2:p.Gly451Ala | |
| ENST00000532616.2:c.1352G>C (RAG2) | ENSP00000432174.2:p.Gly451Ala | |
| ENST00000311485.8:c.1352G>C (RAG2) MANE Select | ENSP00000308620.4:p.Gly451Ala | |
| ENST00000311485.7:c.1352G>C (RAG2) | ENSP00000308620.3:p.Gly451Ala | |
| ENST00000524423.1:n.131+5285G>C (RAG2) | ||
| ENST00000534663.1:c.*86-150C>G (RAG1) | ENSP00000434610.1:n.*86-150C>G | |
| ENST00000618712.4:c.1352G>C (RAG2) | ENSP00000478672.1:p.Gly451Ala | |
| NM_000536.3:c.1352G>C (RAG2) | NP_000527.2:p.Gly451Ala | |
| NM_001243785.1:c.1352G>C (RAG2) | NP_001230714.1:p.Gly451Ala | |
| NM_001243786.1:c.1352G>C (RAG2) | NP_001230715.1:p.Gly451Ala | |
| NM_000536.4:c.1352G>C (RAG2) MANE Select | NP_000527.2:p.Gly451Ala | |
| NM_001243785.2:c.1352G>C (RAG2) | NP_001230714.1:p.Gly451Ala | |
| NM_001243786.2:c.1352G>C (RAG2) | NP_001230715.1:p.Gly451Ala |