Linked Data
ClinVar Variation Id:
1075543
ClinVar RCV Id:
RCV001389164
dbSNP Id:
rs1470797202
MyVariant Identifiers:
chr11:g.36614440_36614441insATCC (hg19)
chr11:g.36592890_36592891insATCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36592892_36592895dup , CM000673.2:g.36592892_36592895dup | GRCh38 |
| NC_000011.9:g.36614442_36614445dup , CM000673.1:g.36614442_36614445dup | GRCh37 |
| NC_000011.8:g.36571018_36571021dup | NCBI36 |
| NG_007573.1:g.10343_10346dup , LRG_99:g.10343_10346dup | |
| NG_033154.1:g.3400_3403dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.1275_1278dup (RAG2) | ENSP00000436895.2:p.Ile427GlyfsTer12 | |
| ENST00000529083.2:c.1275_1278dup (RAG2) | ENSP00000436327.2:p.Ile427GlyfsTer12 | |
| ENST00000532616.2:c.1275_1278dup (RAG2) | ENSP00000432174.2:p.Ile427GlyfsTer12 | |
| ENST00000311485.8:c.1275_1278dup (RAG2) MANE Select | ENSP00000308620.4:p.Ile427GlyfsTer12 | |
| ENST00000311485.7:c.1275_1278dup (RAG2) | ENSP00000308620.3:p.Ile427GlyfsTer12 | |
| ENST00000524423.1:n.131+5208_131+5211dup (RAG2) | ||
| ENST00000534663.1:c.*86-75_*86-72dup (RAG1) | ENSP00000434610.1:n.*86-75_*86-72dup | |
| ENST00000618712.4:c.1275_1278dup (RAG2) | ENSP00000478672.1:p.Ile427GlyfsTer12 | |
| NM_000536.3:c.1275_1278dup (RAG2) | NP_000527.2:p.Ile427GlyfsTer12 | |
| NM_001243785.1:c.1275_1278dup (RAG2) | NP_001230714.1:p.Ile427GlyfsTer12 | |
| NM_001243786.1:c.1275_1278dup (RAG2) | NP_001230715.1:p.Ile427GlyfsTer12 | |
| NM_000536.4:c.1275_1278dup (RAG2) MANE Select | NP_000527.2:p.Ile427GlyfsTer12 | |
| NM_001243785.2:c.1275_1278dup (RAG2) | NP_001230714.1:p.Ile427GlyfsTer12 | |
| NM_001243786.2:c.1275_1278dup (RAG2) | NP_001230715.1:p.Ile427GlyfsTer12 |