Linked Data
ClinVar Variation Id:
224649
ClinVar RCV Id:
RCV000210254
dbSNP Id:
rs869312045
MyVariant Identifiers:
chr2:g.179485581dupT (hg19)
chr2:g.179485580_179485581insT (hg19)
chr2:g.178620854dupT (hg38)
chr2:g.178620853_178620854insT (hg38)
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620857dup , CM000664.2:g.178620857dup | GRCh38 |
| NC_000002.11:g.179485584dup , CM000664.1:g.179485584dup | GRCh37 |
| NC_000002.10:g.179193829dup | NCBI36 |
| NG_011618.3:g.214949dup , LRG_391:g.214949dup | |
| NG_051363.1:g.103031dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.38052dup | ENSP00000343764.6:p.Tyr12685IlefsTer15 | |
| ENST00000342175.11:c.19137dup | ENSP00000340554.6:p.Tyr6380IlefsTer15 | |
| ENST00000359218.10:c.18936dup | ENSP00000352154.5:p.Tyr6313IlefsTer15 | |
| ENST00000342175.10:c.19137dup | ENSP00000340554.6:p.Tyr6380IlefsTer15 | |
| ENST00000342992.10:c.38052dup | ENSP00000343764.6:p.Tyr12685IlefsTer15 | |
| ENST00000359218.9:c.18936dup | ENSP00000352154.5:p.Tyr6313IlefsTer15 | |
| ENST00000460472.6:c.18561dup | ENSP00000434586.1:p.Tyr6188IlefsTer15 | |
| ENST00000589042.5:c.45756dup MANE Select | ENSP00000467141.1:p.Tyr15253IlefsTer15 | |
| ENST00000591111.5:c.40833dup | ENSP00000465570.1:p.Tyr13612IlefsTer15 | |
| ENST00000615779.4:c.40833dup | ENSP00000483597.1:p.Tyr13612IlefsTer15 | |
| NM_001256850.1:c.40833dup | NP_001243779.1:p.Tyr13612IlefsTer15 | |
| NM_001267550.2:c.45756dup MANE Select | NP_001254479.2:p.Tyr15253IlefsTer15 | |
| NM_003319.4:c.18561dup | NP_003310.4:p.Tyr6188IlefsTer15 | |
| NM_133378.4:c.38052dup | NP_596869.4:p.Tyr12685IlefsTer15 | |
| NM_133432.3:c.18936dup | NP_597676.3:p.Tyr6313IlefsTer15 | |
| NM_133437.4:c.19137dup | NP_597681.4:p.Tyr6380IlefsTer15 | |
| XM_011511729.1:c.44853dup | XP_011510031.1:p.Tyr14952IlefsTer15 | |
| XM_011511730.1:c.18747dup | XP_011510032.1:p.Tyr6250IlefsTer15 | |
| XM_011511731.1:c.18606dup | XP_011510033.1:p.Tyr6203IlefsTer15 | |
| XM_017004819.1:c.44649dup | XP_016860308.1:p.Tyr14884IlefsTer15 | |
| XM_017004820.1:c.40047dup | XP_016860309.1:p.Tyr13350IlefsTer15 | |
| XM_017004821.1:c.40044dup | XP_016860310.1:p.Tyr13349IlefsTer15 | |
| XM_017004822.1:c.37086dup | XP_016860311.1:p.Tyr12363IlefsTer15 | |
| XM_017004823.1:c.18702dup | XP_016860312.1:p.Tyr6235IlefsTer15 | |
| XM_024453094.1:c.40197dup | XP_024308862.1:p.Tyr13400IlefsTer15 | |
| XM_024453095.1:c.40194dup | XP_024308863.1:p.Tyr13399IlefsTer15 | |
| XM_024453096.1:c.39627dup | XP_024308864.1:p.Tyr13210IlefsTer15 | |
| XM_024453097.1:c.36969dup | XP_024308865.1:p.Tyr12324IlefsTer15 | |
| XM_024453098.1:c.36888dup | XP_024308866.1:p.Tyr12297IlefsTer15 | |
| XM_024453099.1:c.18651dup | XP_024308867.1:p.Tyr6218IlefsTer15 | |
| XM_024453100.1:c.8505dup | XP_024308868.1:p.Tyr2836IlefsTer15 |