Linked Data
ClinVar Variation Id:
13129
dbSNP Id:
rs121918573
ExAC:
11:36614286 C / T
gnomAD v2:
11-36614286-C-T
gnomAD v3:
11-36592736-C-T
gnomAD v4:
11-36592736-C-T
PubMed:
PMID:8810255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36592736C>T , CM000673.2:g.36592736C>T | GRCh38 |
| NC_000011.9:g.36614286C>T , CM000673.1:g.36614286C>T | GRCh37 |
| NC_000011.8:g.36570862C>T | NCBI36 |
| NG_007573.1:g.10501G>A , LRG_99:g.10501G>A | |
| NG_033154.1:g.3244C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527033.6:c.1433G>A (RAG2) | ENSP00000436895.2:p.Cys478Tyr | |
| ENST00000529083.2:c.1433G>A (RAG2) | ENSP00000436327.2:p.Cys478Tyr | |
| ENST00000532616.2:c.1433G>A (RAG2) | ENSP00000432174.2:p.Cys478Tyr | |
| ENST00000311485.8:c.1433G>A (RAG2) MANE Select | ENSP00000308620.4:p.Cys478Tyr | |
| ENST00000311485.7:c.1433G>A (RAG2) | ENSP00000308620.3:p.Cys478Tyr | |
| ENST00000524423.1:n.131+5366G>A (RAG2) | ||
| ENST00000534663.1:c.*86-231C>T (RAG1) | ENSP00000434610.1:n.*86-231C>T | |
| ENST00000618712.4:c.1433G>A (RAG2) | ENSP00000478672.1:p.Cys478Tyr | |
| NM_000536.3:c.1433G>A (RAG2) | NP_000527.2:p.Cys478Tyr | |
| NM_001243785.1:c.1433G>A (RAG2) | NP_001230714.1:p.Cys478Tyr | |
| NM_001243786.1:c.1433G>A (RAG2) | NP_001230715.1:p.Cys478Tyr | |
| NM_000536.4:c.1433G>A (RAG2) MANE Select | NP_000527.2:p.Cys478Tyr | |
| NM_001243785.2:c.1433G>A (RAG2) | NP_001230714.1:p.Cys478Tyr | |
| NM_001243786.2:c.1433G>A (RAG2) | NP_001230715.1:p.Cys478Tyr |