Linked Data
ClinVar Variation Id:
183240
dbSNP Id:
rs730882256
MyVariant Identifiers:
chr2:g.202571576dupC (hg19)
chr2:g.202571575_202571576insC (hg19)
chr2:g.201706853dupC (hg38)
chr2:g.201706852_201706853insC (hg38)
PubMed:
PMID:24562058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201706856dup , CM000664.2:g.201706856dup | GRCh38 |
| NC_000002.11:g.202571579dup , CM000664.1:g.202571579dup | GRCh37 |
| NC_000002.10:g.202279824dup | NCBI36 |
| NG_008775.1:g.79320dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264276.11:c.4573dup MANE Select | ENSP00000264276.6:p.Val1525GlyfsTer17 | |
| ENST00000439495.6:c.*753dup | ENSP00000403832.2:n.*753dup | |
| ENST00000679409.1:c.*1043dup | ENSP00000506531.1:n.*1043dup | |
| ENST00000679416.1:n.6077dup | ||
| ENST00000679427.1:n.2009dup | ||
| ENST00000679435.1:c.4573dup | ENSP00000505218.1:p.Val1525GlyfsTer17 | |
| ENST00000679516.1:c.4573dup | ENSP00000505187.1:p.Val1525GlyfsTer17 | |
| ENST00000679618.1:c.*1661dup | ENSP00000506274.1:n.*1661dup | |
| ENST00000679630.1:n.6422dup | ||
| ENST00000679635.1:n.2600dup | ||
| ENST00000679686.1:n.4687dup | ||
| ENST00000679701.1:n.7565dup | ||
| ENST00000679916.1:c.*921dup | ENSP00000506172.1:n.*921dup | |
| ENST00000680000.1:c.4573dup | ENSP00000506173.1:p.Val1525GlyfsTer17 | |
| ENST00000680135.1:c.*2534dup | ENSP00000506211.1:n.*2534dup | |
| ENST00000680149.1:c.4570dup | ENSP00000506497.1:p.Val1524GlyfsTer17 | |
| ENST00000680163.1:c.4573dup | ENSP00000505092.1:p.Val1525GlyfsTer17 | |
| ENST00000680174.1:n.5264dup | ||
| ENST00000680236.1:c.*1634dup | ENSP00000506212.1:n.*1634dup | |
| ENST00000680441.1:n.3131dup | ||
| ENST00000680497.1:c.4675dup | ENSP00000505954.1:p.Val1559GlyfsTer17 | |
| ENST00000680508.1:c.4570dup | ENSP00000505749.1:p.Val1524GlyfsTer17 | |
| ENST00000680569.1:c.*2281dup | ENSP00000505522.1:n.*2281dup | |
| ENST00000680634.1:n.1081dup | ||
| ENST00000680722.1:n.2373dup | ||
| ENST00000680726.1:c.4573dup | ENSP00000505505.1:p.Val1525GlyfsTer17 | |
| ENST00000680759.1:c.4405dup | ENSP00000505848.1:p.Val1469GlyfsTer17 | |
| ENST00000680814.1:c.4573dup | ENSP00000505710.1:p.Val1525GlyfsTer17 | |
| ENST00000680828.1:c.*2267dup | ENSP00000505249.1:n.*2267dup | |
| ENST00000680861.1:c.4573dup | ENSP00000505043.1:p.Val1525GlyfsTer17 | |
| ENST00000680927.1:c.*753dup | ENSP00000505473.1:n.*753dup | |
| ENST00000680939.1:n.4915dup | ||
| ENST00000681250.1:c.*1290dup | ENSP00000505684.1:n.*1290dup | |
| ENST00000681256.1:c.*2588dup | ENSP00000505446.1:n.*2588dup | |
| ENST00000681279.1:n.5439dup | ||
| ENST00000681307.1:n.5686dup | ||
| ENST00000681461.1:n.5341dup | ||
| ENST00000681495.1:c.2110dup | ENSP00000506085.1:p.Val704GlyfsTer17 | |
| ENST00000681558.1:c.2251dup | ENSP00000505568.1:p.Val751GlyfsTer17 | |
| ENST00000681619.1:c.4570dup | ENSP00000505071.1:p.Val1524GlyfsTer17 | |
| ENST00000681663.1:n.1479dup | ||
| ENST00000681692.1:n.2533dup | ||
| ENST00000681716.1:c.*2427dup | ENSP00000505078.1:n.*2427dup | |
| ENST00000681768.1:c.*2237dup | ENSP00000506311.1:n.*2237dup | |
| ENST00000681808.1:c.4403+1016dup | ENSP00000505219.1:n.4403+1016dup | |
| ENST00000264276.10:c.4573dup | ENSP00000264276.6:p.Val1525GlyfsTer17 | |
| ENST00000439495.5:c.2677dup | ||
| NM_020919.3:c.4573dup | NP_065970.2:p.Val1525GlyfsTer17 | |
| XM_005246709.2:c.4570dup | XP_005246766.1:p.Val1524GlyfsTer17 | |
| XM_006712654.1:c.4573dup | XP_006712717.1:p.Val1525GlyfsTer17 | |
| XM_006712655.2:c.2509dup | XP_006712718.1:p.Val837GlyfsTer17 | |
| XM_011511530.1:c.4234dup | XP_011509832.1:p.Val1412GlyfsTer17 | |
| XR_922974.1:n.4851dup | ||
| XM_006712654.3:c.4573dup | XP_006712717.1:p.Val1525GlyfsTer17 | |
| XM_006712655.3:c.2509dup | XP_006712718.1:p.Val837GlyfsTer17 | |
| XM_017004569.2:c.4570dup | XP_016860058.1:p.Val1524GlyfsTer17 | |
| XM_017004572.2:c.2191dup | XP_016860061.1:p.Val731GlyfsTer17 | |
| XM_024453024.1:c.4234dup | XP_024308792.1:p.Val1412GlyfsTer17 | |
| XM_024453025.1:c.2506dup | XP_024308793.1:p.Val836GlyfsTer17 | |
| XR_001738864.2:n.4708dup | ||
| XR_001738865.2:n.4705dup | ||
| XR_001738866.2:n.4851dup | ||
| XR_001738867.2:n.4848dup | ||
| XR_002959320.1:n.3764dup | ||
| NM_020919.4:c.4573dup MANE Select | NP_065970.2:p.Val1525GlyfsTer17 |