Linked Data
ClinVar Variation Id:
95624
ClinVar RCV Id:
RCV000081657
dbSNP Id:
rs398124276
MyVariant Identifiers:
chr2:g.145157168del (hg19)
chr2:g.145157168delG (hg19)
chr2:g.144399601del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399601del , CM000664.2:g.144399601del | GRCh38 |
| NC_000002.11:g.145157168del , CM000664.1:g.145157168del | GRCh37 |
| NC_000002.10:g.144873638del | NCBI36 |
| NG_016431.1:g.125791del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689298.1:c.*1435del | ENSP00000508434.1:n.*1435del | |
| ENST00000440875.6:c.809del | ENSP00000475553.3:p.Thr270SerfsTer15 | |
| ENST00000627532.3:c.1586del MANE Select | ENSP00000487174.1:p.Thr529SerfsTer15 | |
| ENST00000636026.2:c.1586del | ENSP00000490776.1:p.Thr529SerfsTer15 | |
| ENST00000636179.1:n.1555del | ||
| ENST00000636413.1:c.1250del | ENSP00000490508.1:p.Thr417SerfsTer15 | |
| ENST00000636471.1:c.1661del | ENSP00000490317.1:p.Thr554SerfsTer15 | |
| ENST00000636732.2:c.*1303del | ENSP00000490175.1:n.*1303del | |
| ENST00000636820.1:n.1686del | ||
| ENST00000637045.1:c.1250del | ENSP00000490141.1:p.Thr417SerfsTer15 | |
| ENST00000637267.2:c.1586del | ENSP00000490293.2:p.Thr529SerfsTer15 | |
| ENST00000637304.1:c.1250del | ENSP00000490872.1:p.Thr417SerfsTer15 | |
| ENST00000638007.1:c.1250del | ENSP00000490723.1:p.Thr417SerfsTer15 | |
| ENST00000638087.1:c.1250del | ENSP00000490673.1:p.Thr417SerfsTer15 | |
| ENST00000638128.1:c.809del | ENSP00000490934.1:p.Thr270SerfsTer15 | |
| ENST00000675069.1:c.-133-751del | ENSP00000502467.1:n.-133-751del | |
| ENST00000675145.1:n.2134del | ||
| ENST00000303660.8:c.1583del | ENSP00000302501.4:p.Thr528SerfsTer15 | |
| ENST00000409487.7:c.1586del | ENSP00000386854.2:p.Thr529SerfsTer15 | |
| ENST00000419938.5:c.655+1598del | ENSP00000394777.2:n.655+1598del | |
| ENST00000427902.5:c.1673del | ENSP00000395496.2:p.Thr558SerfsTer15 | |
| ENST00000440875.5:c.1154-51del | ENSP00000475553.2:n.1154-51del | |
| ENST00000539609.7:c.1514del | ENSP00000443792.2:p.Thr505SerfsTer15 | |
| ENST00000558170.6:c.1586del | ENSP00000454157.1:p.Thr529SerfsTer15 | |
| ENST00000627532.2:c.1586del | ENSP00000487174.1:p.Thr529SerfsTer15 | |
| NM_001171653.1:c.1514del | NP_001165124.1:p.Thr505SerfsTer15 | |
| NM_014795.3:c.1586del | NP_055610.1:p.Thr529SerfsTer15 | |
| XM_006712881.2:c.1586del | XP_006712944.1:p.Thr529SerfsTer15 | |
| XM_006712882.2:c.1586del | XP_006712945.1:p.Thr529SerfsTer15 | |
| XM_011512231.1:c.1577del | XP_011510533.1:p.Thr526SerfsTer15 | |
| XM_011512232.1:c.1565del | XP_011510534.1:p.Thr522SerfsTer15 | |
| NM_014795.4:c.1586del MANE Select | NP_055610.1:p.Thr529SerfsTer15 | |
| NM_001171653.2:c.1514del | NP_001165124.1:p.Thr505SerfsTer15 |