Linked Data
ClinVar Variation Id:
36717
ClinVar RCV Id:
RCV000030396
RCV000681591
RCV000788782
RCV001389165
RCV003407371
RCV003473150
RCV003991463
dbSNP Id:
rs193922572
ExAC:
11:36614472 C / A
gnomAD v2:
11-36614472-C-A
gnomAD v3:
11-36592922-C-A
gnomAD v4:
11-36592922-C-A
ERepo:
CA214212/MONDO:0000573/124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36592922C>A , CM000673.2:g.36592922C>A | GRCh38 |
| NC_000011.9:g.36614472C>A , CM000673.1:g.36614472C>A | GRCh37 |
| NC_000011.8:g.36571048C>A | NCBI36 |
| NG_007573.1:g.10315G>T , LRG_99:g.10315G>T | |
| NG_033154.1:g.3430C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.1247G>T (RAG2) | ENSP00000436895.2:p.Trp416Leu | |
| ENST00000529083.2:c.1247G>T (RAG2) | ENSP00000436327.2:p.Trp416Leu | |
| ENST00000532616.2:c.1247G>T (RAG2) | ENSP00000432174.2:p.Trp416Leu | |
| ENST00000311485.8:c.1247G>T (RAG2) MANE Select | ENSP00000308620.4:p.Trp416Leu | |
| ENST00000311485.7:c.1247G>T (RAG2) | ENSP00000308620.3:p.Trp416Leu | |
| ENST00000524423.1:n.131+5180G>T (RAG2) | ||
| ENST00000534663.1:c.*86-45C>A (RAG1) | ENSP00000434610.1:n.*86-45C>A | |
| ENST00000618712.4:c.1247G>T (RAG2) | ENSP00000478672.1:p.Trp416Leu | |
| NM_000536.3:c.1247G>T (RAG2) | NP_000527.2:p.Trp416Leu | |
| NM_001243785.1:c.1247G>T (RAG2) | NP_001230714.1:p.Trp416Leu | |
| NM_001243786.1:c.1247G>T (RAG2) | NP_001230715.1:p.Trp416Leu | |
| NM_000536.4:c.1247G>T (RAG2) MANE Select | NP_000527.2:p.Trp416Leu | |
| NM_001243785.2:c.1247G>T (RAG2) | NP_001230714.1:p.Trp416Leu | |
| NM_001243786.2:c.1247G>T (RAG2) | NP_001230715.1:p.Trp416Leu |