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.47409534T>C | CA46676810 | MSH2 | c.367-560T>C (n.367-560T>C) c.169-560T>C (n.169-560T>C) n.439-560T>C n.429-560T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47409534T= | CA2495830760 | MSH2 | c.367-560T= (n.367-560T=) c.169-560T= (n.169-560T=) n.439-560T= n.429-560T= | |
| 2 | g.47409537T>C | CA1030257562 | MSH2 | c.367-557T>C (n.367-557T>C) c.169-557T>C (n.169-557T>C) n.439-557T>C n.429-557T>C | gnomAD v3 gnomAD v4 |
| 2 | g.47409542T>G | CA2495830762 | MSH2 | c.367-552T>G (n.367-552T>G) c.169-552T>G (n.169-552T>G) n.439-552T>G n.429-552T>G | dbSNP |
| 2 | g.47409542T= | CA2495830761 | MSH2 | c.367-552T= (n.367-552T=) c.169-552T= (n.169-552T=) n.439-552T= n.429-552T= | |
| 2 | g.47409543T>C | CA1030257564 | MSH2 | c.367-551T>C (n.367-551T>C) c.169-551T>C (n.169-551T>C) n.439-551T>C n.429-551T>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409543T= | CA2495830763 | MSH2 | c.367-551T= (n.367-551T=) c.169-551T= (n.169-551T=) n.439-551T= n.429-551T= | |
| 2 | g.47409545G>A | CA46676812 | MSH2 | c.367-549G>A (n.367-549G>A) c.169-549G>A (n.169-549G>A) n.439-549G>A n.429-549G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409545G= | CA2495830764 | MSH2 | c.367-549G= (n.367-549G=) c.169-549G= (n.169-549G=) n.439-549G= n.429-549G= | |
| 2 | g.47409546T>G | CA2749801195 | MSH2 | c.367-548T>G (n.367-548T>G) c.169-548T>G (n.169-548T>G) n.439-548T>G n.429-548T>G | |
| 2 | g.47409550G>C | CA46676813 | MSH2 | c.367-544G>C (n.367-544G>C) c.169-544G>C (n.169-544G>C) n.439-544G>C n.429-544G>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409550G= | CA2495830765 | MSH2 | c.367-544G= (n.367-544G=) c.169-544G= (n.169-544G=) n.439-544G= n.429-544G= | |
| 2 | g.47409551A= | CA2495830766 | MSH2 | c.367-543A= (n.367-543A=) c.169-543A= (n.169-543A=) n.439-543A= n.429-543A= | |
| 2 | g.47409551A>G | CA1030257569 | MSH2 | c.367-543A>G (n.367-543A>G) c.169-543A>G (n.169-543A>G) n.439-543A>G n.429-543A>G | gnomAD v3 gnomAD v4 |
| 2 | g.47409551A>T | CA46676815 | MSH2 | c.367-543A>T (n.367-543A>T) c.169-543A>T (n.169-543A>T) n.439-543A>T n.429-543A>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409551_47409552del | CA2518489746 | MSH2 | c.367-543_367-542del (n.367-543_367-542del) c.169-543_169-542del (n.169-543_169-542del) n.439-543_439-542del n.429-543_429-542del | |
| 2 | g.47409552T>A | CA2749801196 | MSH2 | c.367-542T>A (n.367-542T>A) c.169-542T>A (n.169-542T>A) n.439-542T>A n.429-542T>A | |
| 2 | g.47409552T>C | CA1030257571 | MSH2 | c.367-542T>C (n.367-542T>C) c.169-542T>C (n.169-542T>C) n.439-542T>C n.429-542T>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409552T= | CA2495830767 | MSH2 | c.367-542T= (n.367-542T=) c.169-542T= (n.169-542T=) n.439-542T= n.429-542T= | |
| 2 | g.47409553G>A | CA1030257578 | MSH2 | c.367-541G>A (n.367-541G>A) c.169-541G>A (n.169-541G>A) n.439-541G>A n.429-541G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409553G>C | CA2495830769 | MSH2 | c.367-541G>C (n.367-541G>C) c.169-541G>C (n.169-541G>C) n.439-541G>C n.429-541G>C | dbSNP |
| 2 | g.47409553G= | CA2495830768 | MSH2 | c.367-541G= (n.367-541G=) c.169-541G= (n.169-541G=) n.439-541G= n.429-541G= | |
| 2 | g.47409556_47409557insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2749801197 | MSH2 | c.367-538_367-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.367-538_367-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.169-538_169-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.169-538_169-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.439-538_439-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.429-538_429-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | |
| 2 | g.47409556_47409557insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2749801198 | MSH2 | c.367-538_367-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.367-538_367-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.169-538_169-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.169-538_169-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.439-538_439-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG n.429-538_429-537insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | |
| 2 | g.47409553_47409554insCA | CA2502684771 | MSH2 | c.367-541_367-540insCA (n.367-541_367-540insCA) c.169-541_169-540insCA (n.169-541_169-540insCA) n.439-541_439-540insCA n.429-541_429-540insCA | |
| 2 | g.47409554G>A | CA425965883 | MSH2 | c.367-540G>A (n.367-540G>A) c.169-540G>A (n.169-540G>A) n.439-540G>A n.429-540G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409554G= | CA2495830770 | MSH2 | c.367-540G= (n.367-540G=) c.169-540G= (n.169-540G=) n.439-540G= n.429-540G= | |
| 2 | g.47409557T>G | CA2543433064 | MSH2 | c.367-537T>G (n.367-537T>G) c.169-537T>G (n.169-537T>G) n.439-537T>G n.429-537T>G | |
| 2 | g.47409558T>A | CA1030257586 | MSH2 | c.367-536T>A (n.367-536T>A) c.169-536T>A (n.169-536T>A) n.439-536T>A n.429-536T>A | gnomAD v3 gnomAD v4 |
| 2 | g.47409560C>A | CA769450079 | MSH2 | c.367-534C>A (n.367-534C>A) c.169-534C>A (n.169-534C>A) n.439-534C>A n.429-534C>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409560C= | CA2495830771 | MSH2 | c.367-534C= (n.367-534C=) c.169-534C= (n.169-534C=) n.439-534C= n.429-534C= | |
| 2 | g.47409560C>T | CA1030257590 | MSH2 | c.367-534C>T (n.367-534C>T) c.169-534C>T (n.169-534C>T) n.439-534C>T n.429-534C>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409561A>C | CA2548684311 | MSH2 | c.367-533A>C (n.367-533A>C) c.169-533A>C (n.169-533A>C) n.439-533A>C n.429-533A>C | |
| 2 | g.47409562C= | CA2495830772 | MSH2 | c.367-532C= (n.367-532C=) c.169-532C= (n.169-532C=) n.439-532C= n.429-532C= | |
| 2 | g.47409562C>T | CA769450080 | MSH2 | c.367-532C>T (n.367-532C>T) c.169-532C>T (n.169-532C>T) n.439-532C>T n.429-532C>T | dbSNP |
| 2 | g.47409563C= | CA2495830773 | MSH2 | c.367-531C= (n.367-531C=) c.169-531C= (n.169-531C=) n.439-531C= n.429-531C= | |
| 2 | g.47409563C>G | CA2749801199 | MSH2 | c.367-531C>G (n.367-531C>G) c.169-531C>G (n.169-531C>G) n.439-531C>G n.429-531C>G | |
| 2 | g.47409563C>T | CA769450081 | MSH2 | c.367-531C>T (n.367-531C>T) c.169-531C>T (n.169-531C>T) n.439-531C>T n.429-531C>T | dbSNP |
| 2 | g.47409564A>G | CA1030257591 | MSH2 | c.367-530A>G (n.367-530A>G) c.169-530A>G (n.169-530A>G) n.439-530A>G n.429-530A>G | gnomAD v3 gnomAD v4 |
| 2 | g.47409564A>T | CA1030257592 | MSH2 | c.367-530A>T (n.367-530A>T) c.169-530A>T (n.169-530A>T) n.439-530A>T n.429-530A>T | gnomAD v3 gnomAD v4 |
| 2 | g.47409565T>C | CA769450083 | MSH2 | c.367-529T>C (n.367-529T>C) c.169-529T>C (n.169-529T>C) n.439-529T>C n.429-529T>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47409565T= | CA2495830774 | MSH2 | c.367-529T= (n.367-529T=) c.169-529T= (n.169-529T=) n.439-529T= n.429-529T= | |
| 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.47409569G>A | CA1030257594 | MSH2 | c.367-525G>A (n.367-525G>A) c.169-525G>A (n.169-525G>A) n.439-525G>A n.429-525G>A | gnomAD v3 gnomAD v4 |
| 2 | g.47409569G>C | CA46676816 | MSH2 | c.367-525G>C (n.367-525G>C) c.169-525G>C (n.169-525G>C) n.439-525G>C n.429-525G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |