Linked Data
ClinVar Variation Id:
134130
dbSNP Id:
rs587778281
ExAC:
2:128038128 A / AT
gnomAD v2:
2-128038128-A-AT
gnomAD v3:
2-127280552-A-AT
gnomAD v4:
2-127280552-A-AT
COSMIC:
COSM5990026
MyVariant Identifiers:
chr2:g.128038129dupT (hg19)
chr2:g.128038128_128038129insT (hg19)
chr2:g.127280553dupT (hg38)
chr2:g.127280552_127280553insT (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127280553dup , CM000664.2:g.127280553dup | GRCh38 |
| NC_000002.11:g.128038129dup , CM000664.1:g.128038129dup | GRCh37 |
| NC_000002.10:g.127754599dup | NCBI36 |
| NG_007454.1:g.18624dup , LRG_462:g.18624dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1421dup MANE Select | ENSP00000285398.2:p.Asp474GlufsTer2 | |
| ENST00000644317.1:c.*910dup | ENSP00000494012.1:n.*910dup | |
| ENST00000645233.1:c.*1633dup | ENSP00000494116.1:n.*1633dup | |
| ENST00000645467.1:c.*193dup | ENSP00000494889.1:n.*193dup | |
| ENST00000645504.1:c.174dup | ||
| ENST00000645736.1:c.1199-1178dup | ENSP00000494545.1:n.1199-1178dup | |
| ENST00000646042.1:n.2156dup | ||
| ENST00000646654.1:c.*888dup | ENSP00000494526.1:n.*888dup | |
| ENST00000647169.1:c.1496dup | ENSP00000495619.1:p.Asp499GlufsTer2 | |
| ENST00000647496.1:c.395+8784dup | ||
| ENST00000285398.6:c.1421dup | ENSP00000285398.2:p.Asp474GlufsTer2 | |
| ENST00000426778.5:c.*1402dup | ENSP00000415335.1:n.*1402dup | |
| ENST00000445889.5:c.*1464dup | ENSP00000390888.1:n.*1464dup | |
| NM_000122.1:c.1421dup , LRG_462t1:c.1421dup | NP_000113.1:p.Asp474GlufsTer2 | |
| NM_001303416.1:c.1229dup | NP_001290345.1:p.Asp410GlufsTer2 | |
| NM_001303418.1:c.1229dup | NP_001290347.1:p.Asp410GlufsTer2 | |
| XM_011510794.1:c.1439dup | XP_011509096.1:p.Asp480GlufsTer2 | |
| XM_011510795.1:c.983dup | XP_011509097.1:p.Asp328GlufsTer2 | |
| XM_011510794.2:c.1439dup | XP_011509096.1:p.Asp480GlufsTer2 | |
| XM_017003583.1:c.965dup | XP_016859072.1:p.Asp322GlufsTer2 | |
| NM_000122.2:c.1421dup MANE Select | NP_000113.1:p.Asp474GlufsTer2 | |
| NM_001303416.2:c.1229dup | NP_001290345.1:p.Asp410GlufsTer2 | |
| NM_001303418.2:c.1229dup | NP_001290347.1:p.Asp410GlufsTer2 |