Primary Site >> Esophagus Cancer
Gene >> SHANK2
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70798461:70798461(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs149996975 |
| CDS Mutation | c.622C>T |
| AA Mutation | p.Pro208Ser(p.P208S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70487033:70487033(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2123G>A |
| AA Mutation | p.Arg708His(p.R708H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70473177:70473177(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs370834280 |
| CDS Mutation | c.4105C>T |
| AA Mutation | p.Pro1369Ser(p.P1369S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70486320:70486320(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2836G>C |
| AA Mutation | p.Asp946His(p.D946H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000601538 |
| Start | 71092564:71092564(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.770C>T |
| AA Mutation | p.Pro257Leu(p.P257L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70486703:70486703(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2453G>C |
| AA Mutation | p.Gly818Ala(p.G818A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000423696 |
| Start | 70486494:70486494(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2662C>A |
| AA Mutation | p.Gln888Lys(p.Q888K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |