Linked Data
ClinVar Variation Id:
692022
dbSNP Id:
rs1573717173
MyVariant Identifiers:
chr2:g.145157367delC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399801del , CM000664.2:g.144399801del | GRCh38 |
| NC_000002.11:g.145157368del , CM000664.1:g.145157368del | GRCh37 |
| NC_000002.10:g.144873838del | NCBI36 |
| NG_016431.1:g.125592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*1236del | ENSP00000508434.1:n.*1236del | |
| ENST00000440875.6:c.610del | ENSP00000475553.3:p.Val204PhefsTer24 | |
| ENST00000627532.3:c.1387del MANE Select | ENSP00000487174.1:p.Val463PhefsTer24 | |
| ENST00000636026.2:c.1387del | ENSP00000490776.1:p.Val463PhefsTer24 | |
| ENST00000636179.1:n.1356del | ||
| ENST00000636413.1:c.1051del | ENSP00000490508.1:p.Val351PhefsTer24 | |
| ENST00000636471.1:c.1462del | ENSP00000490317.1:p.Val488PhefsTer24 | |
| ENST00000636732.2:c.*1104del | ENSP00000490175.1:n.*1104del | |
| ENST00000636820.1:n.1487del | ||
| ENST00000637045.1:c.1051del | ENSP00000490141.1:p.Val351PhefsTer24 | |
| ENST00000637267.2:c.1387del | ENSP00000490293.2:p.Val463PhefsTer24 | |
| ENST00000637304.1:c.1051del | ENSP00000490872.1:p.Val351PhefsTer24 | |
| ENST00000638007.1:c.1051del | ENSP00000490723.1:p.Val351PhefsTer24 | |
| ENST00000638087.1:c.1051del | ENSP00000490673.1:p.Val351PhefsTer24 | |
| ENST00000638128.1:c.610del | ENSP00000490934.1:p.Val204PhefsTer24 | |
| ENST00000675069.1:c.-133-950del | ENSP00000502467.1:n.-133-950del | |
| ENST00000675145.1:n.1935del | ||
| ENST00000303660.8:c.1384del | ENSP00000302501.4:p.Val462PhefsTer24 | |
| ENST00000409487.7:c.1387del | ENSP00000386854.2:p.Val463PhefsTer24 | |
| ENST00000419938.5:c.655+1399del | ENSP00000394777.2:n.655+1399del | |
| ENST00000427902.5:c.1474del | ENSP00000395496.2:p.Val492PhefsTer24 | |
| ENST00000440875.5:c.1153+219del | ENSP00000475553.2:n.1153+219del | |
| ENST00000539609.7:c.1315del | ENSP00000443792.2:p.Val439PhefsTer24 | |
| ENST00000558170.6:c.1387del | ENSP00000454157.1:p.Val463PhefsTer24 | |
| ENST00000627532.2:c.1387del | ENSP00000487174.1:p.Val463PhefsTer24 | |
| NM_001171653.1:c.1315del | NP_001165124.1:p.Val439PhefsTer24 | |
| NM_014795.3:c.1387del | NP_055610.1:p.Val463PhefsTer24 | |
| XM_006712881.2:c.1387del | XP_006712944.1:p.Val463PhefsTer24 | |
| XM_006712882.2:c.1387del | XP_006712945.1:p.Val463PhefsTer24 | |
| XM_011512231.1:c.1378del | XP_011510533.1:p.Val460PhefsTer24 | |
| XM_011512232.1:c.1366del | XP_011510534.1:p.Val456PhefsTer24 | |
| NM_014795.4:c.1387del MANE Select | NP_055610.1:p.Val463PhefsTer24 | |
| NM_001171653.2:c.1315del | NP_001165124.1:p.Val439PhefsTer24 |