UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47401439_47411294del | CA331194 | ClinVar | ||
| 2 | g.47403280_47410368delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | CA658760387 | MSH2 | c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT c.-30-80_443delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.161_713delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.151_703delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | |
| 2 | g.47408402_47410373del | CA2581463448 | MSH2 | c.213_645+1del c.15_447+1del n.285_717+1del n.275_707+1del | |
| 2 | g.47409413_47411458del | CA331584 | MSH2 | c.367-681_646-956del c.169-681_448-956del n.439-681_718-956del n.429-681_708-956del | ClinVar |
| 2 | g.47409567_47410219delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | CA2495830775 | MSH2 | c.367-527_492delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG c.169-527_294delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.439-527_564delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.429-527_554delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | |
| 2 | g.47409569_47410220del | CA658795727 | MSH2 | c.367-525_493del c.169-525_295del n.439-525_565del n.429-525_555del | ClinVar dbSNP |
| 2 | g.47409628_47411030del | CA331583 | MSH2 | c.367-466_645+658del c.169-466_447+658del n.439-466_717+658del n.429-466_707+658del | ClinVar |
| 2 | g.47409642_47411692del | CA331582 | MSH2 | c.367-452_646-722del c.169-452_448-722del n.439-452_718-722del n.429-452_708-722del | ClinVar |
| 2 | g.47409723_47411901del | CA331581 | MSH2 | c.367-371_646-513del c.169-371_448-513del n.439-371_718-513del n.429-371_708-513del | ClinVar |
| 2 | g.47410034A= | CA2495831078 | MSH2 | c.367-60A= (n.367-60A=) c.169-60A= (n.169-60A=) n.439-60A= n.429-60A= | |
| 2 | g.47410034A>G | CA532343037 | MSH2 | c.367-60A>G (n.367-60A>G) c.169-60A>G (n.169-60A>G) n.439-60A>G n.429-60A>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47410034A>T | CA2658946045 | MSH2 | c.367-60A>T (n.367-60A>T) c.169-60A>T (n.169-60A>T) n.439-60A>T n.429-60A>T | dbSNP gnomAD v4 |
| 2 | g.47410035T>C | CA532343038 | MSH2 | c.367-59T>C (n.367-59T>C) c.169-59T>C (n.169-59T>C) n.439-59T>C n.429-59T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47410035T= | CA2495831079 | MSH2 | c.367-59T= (n.367-59T=) c.169-59T= (n.169-59T=) n.439-59T= n.429-59T= | |
| 2 | g.47410036A= | CA2495831080 | MSH2 | c.367-58A= (n.367-58A=) c.169-58A= (n.169-58A=) n.439-58A= n.429-58A= | |
| 2 | g.47410036A>C | CA2495831081 | MSH2 | c.367-58A>C (n.367-58A>C) c.169-58A>C (n.169-58A>C) n.439-58A>C n.429-58A>C | dbSNP gnomAD v4 |
| 2 | g.47410036A>G | CA2495831082 | MSH2 | c.367-58A>G (n.367-58A>G) c.169-58A>G (n.169-58A>G) n.439-58A>G n.429-58A>G | dbSNP gnomAD v4 |
| 2 | g.47410036A>T | CA2699139097 | MSH2 | c.367-58A>T (n.367-58A>T) c.169-58A>T (n.169-58A>T) n.439-58A>T n.429-58A>T | dbSNP |
| 2 | g.47410036_47410039del | CA2658946046 | MSH2 | c.367-58_367-55del (n.367-58_367-55del) c.169-58_169-55del (n.169-58_169-55del) n.439-58_439-55del n.429-58_429-55del | gnomAD v4 |
| 2 | g.47410037A>T | CA2699272688 | MSH2 | c.367-57A>T (n.367-57A>T) c.169-57A>T (n.169-57A>T) n.439-57A>T n.429-57A>T | dbSNP |
| 2 | g.47410038A>T | CA2699272729 | MSH2 | c.367-56A>T (n.367-56A>T) c.169-56A>T (n.169-56A>T) n.439-56A>T n.429-56A>T | dbSNP |
| 2 | g.47410039_47410040delinsAT | CA2495831083 | MSH2 | c.367-55_367-54delinsAT (n.367-55_367-54delinsAT) c.169-55_169-54delinsAT (n.169-55_169-54delinsAT) n.439-55_439-54delinsAT n.429-55_429-54delinsAT | |
| 2 | g.47410040T>A | CA2699139101 | MSH2 | c.367-54T>A (n.367-54T>A) c.169-54T>A (n.169-54T>A) n.439-54T>A n.429-54T>A | dbSNP |
| 2 | g.47410040T>C | CA2658946047 | MSH2 | c.367-54T>C (n.367-54T>C) c.169-54T>C (n.169-54T>C) n.439-54T>C n.429-54T>C | gnomAD v4 |
| 2 | g.47410040T>G | CA1030258032 | MSH2 | c.367-54T>G (n.367-54T>G) c.169-54T>G (n.169-54T>G) n.439-54T>G n.429-54T>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47410040T= | CA2495831085 | MSH2 | c.367-54T= (n.367-54T=) c.169-54T= (n.169-54T=) n.439-54T= n.429-54T= | |
| 2 | g.47410043del | CA2495831084 | MSH2 | c.367-51del (n.367-51del) c.169-51del (n.169-51del) n.439-51del n.429-51del | dbSNP |
| 2 | g.47410041T>A | CA2495831087 | MSH2 | c.367-53T>A (n.367-53T>A) c.169-53T>A (n.169-53T>A) n.439-53T>A n.429-53T>A | dbSNP |
| 2 | g.47410041T>G | CA46677363 | MSH2 | c.367-53T>G (n.367-53T>G) c.169-53T>G (n.169-53T>G) n.439-53T>G n.429-53T>G | dbSNP |
| 2 | g.47410041T= | CA2495831086 | MSH2 | c.367-53T= (n.367-53T=) c.169-53T= (n.169-53T=) n.439-53T= n.429-53T= | |
| 2 | g.47410042T>A | CA2699272731 | MSH2 | c.367-52T>A (n.367-52T>A) c.169-52T>A (n.169-52T>A) n.439-52T>A n.429-52T>A | dbSNP |
| 2 | g.47410043T>C | CA46677367 | MSH2 | c.367-51T>C (n.367-51T>C) c.169-51T>C (n.169-51T>C) n.439-51T>C n.429-51T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47410043T>G | CA2597416595 | MSH2 | c.367-51T>G (n.367-51T>G) c.169-51T>G (n.169-51T>G) n.439-51T>G n.429-51T>G | gnomAD v3 gnomAD v4 |
| 2 | g.47410043T= | CA2495831088 | MSH2 | c.367-51T= (n.367-51T=) c.169-51T= (n.169-51T=) n.439-51T= n.429-51T= | |
| 2 | g.47410044A>C | CA2658946048 | MSH2 | c.367-50A>C (n.367-50A>C) c.169-50A>C (n.169-50A>C) n.439-50A>C n.429-50A>C | gnomAD v4 |
| 2 | g.47410044A>G | CA2699272753 | MSH2 | c.367-50A>G (n.367-50A>G) c.169-50A>G (n.169-50A>G) n.439-50A>G n.429-50A>G | dbSNP |
| 2 | g.47410044A>T | CA2576960552 | MSH2 | c.367-50A>T (n.367-50A>T) c.169-50A>T (n.169-50A>T) n.439-50A>T n.429-50A>T | dbSNP |
| 2 | g.47410046del | CA2576960551 | MSH2 | c.367-48del (n.367-48del) c.169-48del (n.169-48del) n.439-48del n.429-48del | dbSNP gnomAD v4 |
| 2 | g.47410045A= | CA2495831089 | MSH2 | c.367-49A= (n.367-49A=) c.169-49A= (n.169-49A=) n.439-49A= n.429-49A= | |
| 2 | g.47410045A>G | CA2658946049 | MSH2 | c.367-49A>G (n.367-49A>G) c.169-49A>G (n.169-49A>G) n.439-49A>G n.429-49A>G | gnomAD v4 |
| 2 | g.47410045A>T | CA038257 | MSH2 | c.367-49A>T (n.367-49A>T) c.169-49A>T (n.169-49A>T) n.439-49A>T n.429-49A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47410046A>G | CA2699273018 | MSH2 | c.367-48A>G (n.367-48A>G) c.169-48A>G (n.169-48A>G) n.439-48A>G n.429-48A>G | dbSNP |
| 2 | g.47410046A>T | CA2699273067 | MSH2 | c.367-48A>T (n.367-48A>T) c.169-48A>T (n.169-48A>T) n.439-48A>T n.429-48A>T | dbSNP |
| 2 | g.47410047G>A | CA647033921 | MSH2 | c.367-47G>A (n.367-47G>A) c.169-47G>A (n.169-47G>A) n.439-47G>A n.429-47G>A | dbSNP COSMIC |
| 2 | g.47410047G>C | CA2699273070 | MSH2 | c.367-47G>C (n.367-47G>C) c.169-47G>C (n.169-47G>C) n.439-47G>C n.429-47G>C | dbSNP |
| 2 | g.47410047G>T | CA2658946050 | MSH2 | c.367-47G>T (n.367-47G>T) c.169-47G>T (n.169-47G>T) n.439-47G>T n.429-47G>T | gnomAD v4 |
| 2 | g.47410048T>A | CA2699273200 | MSH2 | c.367-46T>A (n.367-46T>A) c.169-46T>A (n.169-46T>A) n.439-46T>A n.429-46T>A | dbSNP |
| 2 | g.47410049A= | CA2495831090 | MSH2 | c.367-45A= (n.367-45A=) c.169-45A= (n.169-45A=) n.439-45A= n.429-45A= | |
| 2 | g.47410049A>G | CA532343039 | MSH2 | c.367-45A>G (n.367-45A>G) c.169-45A>G (n.169-45A>G) n.439-45A>G n.429-45A>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47410050T>A | CA2699139102 | MSH2 | c.367-44T>A (n.367-44T>A) c.169-44T>A (n.169-44T>A) n.439-44T>A n.429-44T>A | dbSNP |