| Gene ID | 6757 |
| Symbol | SSX2 |
| Synonymous | CT5.2|CT5.2A|HD21|HOM-MEL-40|SSX |
| Full name | synovial sarcoma, X breakpoint 2 |
| Gene description | cancer/testis antigen 5.2|cancer/testis antigen family 5, member 2a|protein SSX2|sarcoma, synovial, X-chromosome-related 2|synovial sarcoma, X breakpoint 2B|tumor antigen HOM-MEL-40 |
| Cytoband | Xp11.22 |
| Gene type | protein-coding |
| Synonymous | MIM:300192; HGNC:HGNC:11336; Ensembl:ENSG00000241476; HPRD:02180; Vega:OTTHUMG00000022697 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.82A>T; p.I28F; 23:52753200-52753200 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.129G>A; p.S43S; 23:52753247-52753247 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.91T>A; p.Y31N; 23:52753209-52753209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.109T>G; p.W37G; 23:52753227-52753227 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.196A>C; p.T66P; 23:52753849-52753849 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |