Linked Data
ClinVar Variation Id:
167852
ClinVar RCV Id:
RCV000154151
dbSNP Id:
rs727504223
MyVariant Identifiers:
chr2:g.145147130del (hg19)
chr2:g.145147130delG (hg19)
chr2:g.144389563del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389563del , CM000664.2:g.144389563del | GRCh38 |
| NC_000002.11:g.145147130del , CM000664.1:g.145147130del | GRCh37 |
| NC_000002.10:g.144863600del | NCBI36 |
| NG_016431.1:g.135829del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3382del | ENSP00000508434.1:n.*3382del | |
| ENST00000440875.6:c.2756del | ENSP00000475553.3:p.Thr919ArgfsTer? | |
| ENST00000627532.3:c.3533del MANE Select | ENSP00000487174.1:p.Thr1178ArgfsTer? | |
| ENST00000636026.2:c.3421del | ENSP00000490776.1:p.Arg1141AspfsTer4 | |
| ENST00000636179.1:n.3502del | ||
| ENST00000636413.1:c.3197del | ENSP00000490508.1:p.Thr1066ArgfsTer? | |
| ENST00000636471.1:c.3608del | ENSP00000490317.1:p.Thr1203ArgfsTer? | |
| ENST00000636732.2:c.*3250del | ENSP00000490175.1:n.*3250del | |
| ENST00000636820.1:n.3633del | ||
| ENST00000637045.1:c.3197del | ENSP00000490141.1:p.Thr1066ArgfsTer? | |
| ENST00000637304.1:c.3197del | ENSP00000490872.1:p.Thr1066ArgfsTer? | |
| ENST00000638007.1:c.3197del | ENSP00000490723.1:p.Thr1066ArgfsTer? | |
| ENST00000638087.1:c.3197del | ENSP00000490673.1:p.Thr1066ArgfsTer? | |
| ENST00000638128.1:c.2756del | ENSP00000490934.1:p.Thr919ArgfsTer? | |
| ENST00000639389.1:c.151+6849del | ENSP00000492572.1:n.151+6849del | |
| ENST00000647488.1:c.753del | ENSP00000494820.1:n.753del | |
| ENST00000675069.1:c.1064del | ENSP00000502467.1:p.Thr355ArgfsTer? | |
| ENST00000303660.8:c.3530del | ENSP00000302501.4:p.Thr1177ArgfsTer? | |
| ENST00000409487.7:c.3533del | ENSP00000386854.2:p.Thr1178ArgfsTer? | |
| ENST00000419938.5:c.656-681del | ENSP00000394777.2:n.656-681del | |
| ENST00000539609.7:c.3461del | ENSP00000443792.2:p.Thr1154ArgfsTer? | |
| ENST00000558170.6:c.3533del | ENSP00000454157.1:p.Thr1178ArgfsTer? | |
| ENST00000627532.2:c.3533del | ENSP00000487174.1:p.Thr1178ArgfsTer? | |
| NM_001171653.1:c.3461del | NP_001165124.1:p.Thr1154ArgfsTer? | |
| NM_014795.3:c.3533del | NP_055610.1:p.Thr1178ArgfsTer? | |
| XM_006712881.2:c.3533del | XP_006712944.1:p.Thr1178ArgfsTer? | |
| XM_006712882.2:c.3533del | XP_006712945.1:p.Thr1178ArgfsTer? | |
| XM_011512231.1:c.3524del | XP_011510533.1:p.Thr1175ArgfsTer? | |
| XM_011512232.1:c.3512del | XP_011510534.1:p.Thr1171ArgfsTer? | |
| NM_014795.4:c.3533del MANE Select | NP_055610.1:p.Thr1178ArgfsTer? | |
| NM_001171653.2:c.3461del | NP_001165124.1:p.Thr1154ArgfsTer? |