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 |
|---|---|---|---|---|---|
| 19 | g.52212729_52212731del | CA2586787407 | PPP2R1A | c.667_669del (p.Arg223del) c.10_12del (p.Arg4del) n.491_493del c.589_591del (p.Arg197del) n.700_702del c.523_525del (p.Arg175del) c.547_549del (p.Arg183del) n.238_240del n.741_743del | gnomAD v4 |
| 19 | g.52212730G>A | CA16602938 | PPP2R1A | c.668G>A (p.Arg223Gln) c.11G>A (p.Arg4Gln) n.492G>A c.590G>A (p.Arg197Gln) n.701G>A c.524G>A (p.Arg175Gln) c.548G>A (p.Arg183Gln) n.239G>A n.742G>A | ClinVar dbSNP COSMIC |
| 19 | g.52212730G>C | CA407183567 | PPP2R1A | c.668G>C (p.Arg223Pro) c.11G>C (p.Arg4Pro) n.492G>C c.590G>C (p.Arg197Pro) n.701G>C c.524G>C (p.Arg175Pro) c.548G>C (p.Arg183Pro) n.239G>C n.742G>C | ClinVar dbSNP COSMIC |
| 19 | g.52212730G= | CA2341739290 | PPP2R1A | c.668G= (p.Arg223=) c.11G= (p.Arg4=) n.492G= c.590G= (p.Arg197=) n.701G= c.524G= (p.Arg175=) c.548G= (p.Arg183=) n.239G= n.742G= | |
| 19 | g.52212730G>T | CA407183566 | PPP2R1A | c.668G>T (p.Arg223Leu) c.11G>T (p.Arg4Leu) n.492G>T c.590G>T (p.Arg197Leu) n.701G>T c.524G>T (p.Arg175Leu) c.548G>T (p.Arg183Leu) n.239G>T n.742G>T | dbSNP |
| 19 | g.52212731G>A | CA508826412 | PPP2R1A | c.669G>A (p.Arg223=) c.12G>A (p.Arg4=) n.493G>A c.591G>A (p.Arg197=) n.702G>A c.525G>A (p.Arg175=) c.549G>A (p.Arg183=) n.240G>A n.743G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.52212731G>C | CA508826413 | PPP2R1A | c.669G>C (p.Arg223=) c.12G>C (p.Arg4=) n.493G>C c.591G>C (p.Arg197=) n.702G>C c.525G>C (p.Arg175=) c.549G>C (p.Arg183=) n.240G>C n.743G>C | dbSNP |
| 19 | g.52212731G>T | CA508826414 | PPP2R1A | c.669G>T (p.Arg223=) c.12G>T (p.Arg4=) n.493G>T c.591G>T (p.Arg197=) n.702G>T c.525G>T (p.Arg175=) c.549G>T (p.Arg183=) n.240G>T n.743G>T | dbSNP |
| 19 | g.52212732G>A | CA407183572 | PPP2R1A | c.670G>A (p.Ala224Thr) c.13G>A (p.Ala5Thr) n.494G>A c.592G>A (p.Ala198Thr) n.703G>A c.526G>A (p.Ala176Thr) c.550G>A (p.Ala184Thr) n.241G>A n.744G>A | dbSNP |
| 19 | g.52212732G>C | CA407183574 | PPP2R1A | c.670G>C (p.Ala224Pro) c.13G>C (p.Ala5Pro) n.494G>C c.592G>C (p.Ala198Pro) n.703G>C c.526G>C (p.Ala176Pro) c.550G>C (p.Ala184Pro) n.241G>C n.744G>C | dbSNP |
| 19 | g.52212732G>T | CA407183576 | PPP2R1A | c.670G>T (p.Ala224Ser) c.13G>T (p.Ala5Ser) n.494G>T c.592G>T (p.Ala198Ser) n.703G>T c.526G>T (p.Ala176Ser) c.550G>T (p.Ala184Ser) n.241G>T n.744G>T | dbSNP |
| 19 | g.52212733C>A | CA407183580 | PPP2R1A | c.671C>A (p.Ala224Asp) c.14C>A (p.Ala5Asp) n.495C>A c.593C>A (p.Ala198Asp) n.704C>A c.527C>A (p.Ala176Asp) c.551C>A (p.Ala184Asp) n.242C>A n.745C>A | dbSNP |
| 19 | g.52212733C= | CA2341739291 | PPP2R1A | c.671C= (p.Ala224=) c.14C= (p.Ala5=) n.495C= c.593C= (p.Ala198=) n.704C= c.527C= (p.Ala176=) c.551C= (p.Ala184=) n.242C= n.745C= | |
| 19 | g.52212733C>G | CA407183581 | PPP2R1A | c.671C>G (p.Ala224Gly) c.14C>G (p.Ala5Gly) n.495C>G c.593C>G (p.Ala198Gly) n.704C>G c.527C>G (p.Ala176Gly) c.551C>G (p.Ala184Gly) n.242C>G n.745C>G | dbSNP |
| 19 | g.52212733C>T | CA407183583 | PPP2R1A | c.671C>T (p.Ala224Val) c.14C>T (p.Ala5Val) n.495C>T c.593C>T (p.Ala198Val) n.704C>T c.527C>T (p.Ala176Val) c.551C>T (p.Ala184Val) n.242C>T n.745C>T | dbSNP gnomAD v4 COSMIC |
| 19 | g.52212734C>A | CA508826415 | PPP2R1A | c.672C>A (p.Ala224=) c.15C>A (p.Ala5=) n.496C>A c.594C>A (p.Ala198=) n.705C>A c.528C>A (p.Ala176=) c.552C>A (p.Ala184=) n.243C>A n.746C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.52212734C= | CA2341739292 | PPP2R1A | c.672C= (p.Ala224=) c.15C= (p.Ala5=) n.496C= c.594C= (p.Ala198=) n.705C= c.528C= (p.Ala176=) c.552C= (p.Ala184=) n.243C= n.746C= | |
| 19 | g.52212734C>G | CA508826416 | PPP2R1A | c.672C>G (p.Ala224=) c.15C>G (p.Ala5=) n.496C>G c.594C>G (p.Ala198=) n.705C>G c.528C>G (p.Ala176=) c.552C>G (p.Ala184=) n.243C>G n.746C>G | |
| 19 | g.52212734C>T | CA9621368 | PPP2R1A | c.672C>T (p.Ala224=) c.15C>T (p.Ala5=) n.496C>T c.594C>T (p.Ala198=) n.705C>T c.528C>T (p.Ala176=) c.552C>T (p.Ala184=) n.243C>T n.746C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.52212735_52212736del | CA2576874198 | PPP2R1A | c.673_674del (p.Ala225SerfsTer19) c.16_17del (p.Ala6SerfsTer19) n.497_498del c.595_596del (p.Ala199SerfsTer19) n.706_707del c.529_530del (p.Ala177SerfsTer19) c.553_554del (p.Ala185SerfsTer19) n.244_245del n.747_748del | |
| 19 | g.52212735G>A | CA407183587 | PPP2R1A | c.673G>A (p.Ala225Thr) c.16G>A (p.Ala6Thr) n.497G>A c.595G>A (p.Ala199Thr) n.706G>A c.529G>A (p.Ala177Thr) c.553G>A (p.Ala185Thr) n.244G>A n.747G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.52212735G>C | CA407183590 | PPP2R1A | c.673G>C (p.Ala225Pro) c.16G>C (p.Ala6Pro) n.497G>C c.595G>C (p.Ala199Pro) n.706G>C c.529G>C (p.Ala177Pro) c.553G>C (p.Ala185Pro) n.244G>C n.747G>C | dbSNP |
| 19 | g.52212735G= | CA2341739293 | PPP2R1A | c.673G= (p.Ala225=) c.16G= (p.Ala6=) n.497G= c.595G= (p.Ala199=) n.706G= c.529G= (p.Ala177=) c.553G= (p.Ala185=) n.244G= n.747G= | |
| 19 | g.52212735G>T | CA407183592 | PPP2R1A | c.673G>T (p.Ala225Ser) c.16G>T (p.Ala6Ser) n.497G>T c.595G>T (p.Ala199Ser) n.706G>T c.529G>T (p.Ala177Ser) c.553G>T (p.Ala185Ser) n.244G>T n.747G>T | ClinVar dbSNP |
| 19 | g.52212736C>A | CA407183594 | PPP2R1A | c.674C>A (p.Ala225Glu) c.17C>A (p.Ala6Glu) n.498C>A c.596C>A (p.Ala199Glu) n.707C>A c.530C>A (p.Ala177Glu) c.554C>A (p.Ala185Glu) n.245C>A n.748C>A | |
| 19 | g.52212736C>G | CA407183596 | PPP2R1A | c.674C>G (p.Ala225Gly) c.17C>G (p.Ala6Gly) n.498C>G c.596C>G (p.Ala199Gly) n.707C>G c.530C>G (p.Ala177Gly) c.554C>G (p.Ala185Gly) n.245C>G n.748C>G | dbSNP |
| 19 | g.52212736C>T | CA407183599 | PPP2R1A | c.674C>T (p.Ala225Val) c.17C>T (p.Ala6Val) n.498C>T c.596C>T (p.Ala199Val) n.707C>T c.530C>T (p.Ala177Val) c.554C>T (p.Ala185Val) n.245C>T n.748C>T | dbSNP |
| 19 | g.52212737A= | CA2341739294 | PPP2R1A | c.675A= (p.Ala225=) c.18A= (p.Ala6=) n.499A= c.597A= (p.Ala199=) n.708A= c.531A= (p.Ala177=) c.555A= (p.Ala185=) n.246A= n.749A= | |
| 19 | g.52212737A>C | CA508826417 | PPP2R1A | c.675A>C (p.Ala225=) c.18A>C (p.Ala6=) n.499A>C c.597A>C (p.Ala199=) n.708A>C c.531A>C (p.Ala177=) c.555A>C (p.Ala185=) n.246A>C n.749A>C | dbSNP |
| 19 | g.52212737A>G | CA508826418 | PPP2R1A | c.675A>G (p.Ala225=) c.18A>G (p.Ala6=) n.499A>G c.597A>G (p.Ala199=) n.708A>G c.531A>G (p.Ala177=) c.555A>G (p.Ala185=) n.246A>G n.749A>G | dbSNP gnomAD v4 |
| 19 | g.52212737A>T | CA508826419 | PPP2R1A | c.675A>T (p.Ala225=) c.18A>T (p.Ala6=) n.499A>T c.597A>T (p.Ala199=) n.708A>T c.531A>T (p.Ala177=) c.555A>T (p.Ala185=) n.246A>T n.749A>T | dbSNP |
| 19 | g.52212738G>A | CA407183609 | PPP2R1A | c.676G>A (p.Ala226Thr) c.19G>A (p.Ala7Thr) n.500G>A c.598G>A (p.Ala200Thr) n.709G>A c.532G>A (p.Ala178Thr) c.556G>A (p.Ala186Thr) n.247G>A n.750G>A | dbSNP |
| 19 | g.52212738G>C | CA407183612 | PPP2R1A | c.676G>C (p.Ala226Pro) c.19G>C (p.Ala7Pro) n.500G>C c.598G>C (p.Ala200Pro) n.709G>C c.532G>C (p.Ala178Pro) c.556G>C (p.Ala186Pro) n.247G>C n.750G>C | dbSNP |
| 19 | g.52212738G>T | CA407183606 | PPP2R1A | c.676G>T (p.Ala226Ser) c.19G>T (p.Ala7Ser) n.500G>T c.598G>T (p.Ala200Ser) n.709G>T c.532G>T (p.Ala178Ser) c.556G>T (p.Ala186Ser) n.247G>T n.750G>T | dbSNP |
| 19 | g.52212739C>A | CA407183616 | PPP2R1A | c.677C>A (p.Ala226Asp) c.20C>A (p.Ala7Asp) n.501C>A c.599C>A (p.Ala200Asp) n.710C>A c.533C>A (p.Ala178Asp) c.557C>A (p.Ala186Asp) n.248C>A n.751C>A | dbSNP |
| 19 | g.52212739C>G | CA407183614 | PPP2R1A | c.677C>G (p.Ala226Gly) c.20C>G (p.Ala7Gly) n.501C>G c.599C>G (p.Ala200Gly) n.710C>G c.533C>G (p.Ala178Gly) c.557C>G (p.Ala186Gly) n.248C>G n.751C>G | dbSNP |
| 19 | g.52212739C>T | CA407183619 | PPP2R1A | c.677C>T (p.Ala226Val) c.20C>T (p.Ala7Val) n.501C>T c.599C>T (p.Ala200Val) n.710C>T c.533C>T (p.Ala178Val) c.557C>T (p.Ala186Val) n.248C>T n.751C>T | dbSNP |
| 19 | g.52212740C>A | CA508826420 | PPP2R1A | c.678C>A (p.Ala226=) c.21C>A (p.Ala7=) n.502C>A c.600C>A (p.Ala200=) n.711C>A c.534C>A (p.Ala178=) c.558C>A (p.Ala186=) n.249C>A n.752C>A | dbSNP gnomAD v4 |
| 19 | g.52212740C>G | CA508826421 | PPP2R1A | c.678C>G (p.Ala226=) c.21C>G (p.Ala7=) n.502C>G c.600C>G (p.Ala200=) n.711C>G c.534C>G (p.Ala178=) c.558C>G (p.Ala186=) n.249C>G n.752C>G | dbSNP |
| 19 | g.52212740C>T | CA508826422 | PPP2R1A | c.678C>T (p.Ala226=) c.21C>T (p.Ala7=) n.502C>T c.600C>T (p.Ala200=) n.711C>T c.534C>T (p.Ala178=) c.558C>T (p.Ala186=) n.249C>T n.752C>T | dbSNP |
| 19 | g.52212741T>A | CA407183620 | PPP2R1A | c.679T>A (p.Ser227Thr) c.22T>A (p.Ser8Thr) n.503T>A c.601T>A (p.Ser201Thr) n.712T>A c.535T>A (p.Ser179Thr) c.559T>A (p.Ser187Thr) n.250T>A n.753T>A | |
| 19 | g.52212741T>C | CA407183623 | PPP2R1A | c.679T>C (p.Ser227Pro) c.22T>C (p.Ser8Pro) n.503T>C c.601T>C (p.Ser201Pro) n.712T>C c.535T>C (p.Ser179Pro) c.559T>C (p.Ser187Pro) n.250T>C n.753T>C | dbSNP |
| 19 | g.52212741T>G | CA407183625 | PPP2R1A | c.679T>G (p.Ser227Ala) c.22T>G (p.Ser8Ala) n.503T>G c.601T>G (p.Ser201Ala) n.712T>G c.535T>G (p.Ser179Ala) c.559T>G (p.Ser187Ala) n.250T>G n.753T>G | |
| 19 | g.52212742C>A | CA407183628 | PPP2R1A | c.680C>A (p.Ser227Tyr) c.23C>A (p.Ser8Tyr) n.504C>A c.602C>A (p.Ser201Tyr) n.713C>A c.536C>A (p.Ser179Tyr) c.560C>A (p.Ser187Tyr) n.251C>A n.754C>A | |
| 19 | g.52212742C>G | CA407183630 | PPP2R1A | c.680C>G (p.Ser227Cys) c.23C>G (p.Ser8Cys) n.504C>G c.602C>G (p.Ser201Cys) n.713C>G c.536C>G (p.Ser179Cys) c.560C>G (p.Ser187Cys) n.251C>G n.754C>G | |
| 19 | g.52212742C>T | CA407183634 | PPP2R1A | c.680C>T (p.Ser227Phe) c.23C>T (p.Ser8Phe) n.504C>T c.602C>T (p.Ser201Phe) n.713C>T c.536C>T (p.Ser179Phe) c.560C>T (p.Ser187Phe) n.251C>T n.754C>T | COSMIC |
| 19 | g.52212743C>A | CA508826423 | PPP2R1A | c.681C>A (p.Ser227=) c.24C>A (p.Ser8=) n.505C>A c.603C>A (p.Ser201=) n.714C>A c.537C>A (p.Ser179=) c.561C>A (p.Ser187=) n.252C>A n.755C>A | dbSNP |
| 19 | g.52212743C>G | CA508826424 | PPP2R1A | c.681C>G (p.Ser227=) c.24C>G (p.Ser8=) n.505C>G c.603C>G (p.Ser201=) n.714C>G c.537C>G (p.Ser179=) c.561C>G (p.Ser187=) n.252C>G n.755C>G | dbSNP |
| 19 | g.52212743C>T | CA508826425 | PPP2R1A | c.681C>T (p.Ser227=) c.24C>T (p.Ser8=) n.505C>T c.603C>T (p.Ser201=) n.714C>T c.537C>T (p.Ser179=) c.561C>T (p.Ser187=) n.252C>T n.755C>T | dbSNP |
| 19 | g.52212744A>C | CA407183636 | PPP2R1A | c.682A>C (p.Lys228Gln) c.25A>C (p.Lys9Gln) n.506A>C c.604A>C (p.Lys202Gln) n.715A>C c.538A>C (p.Lys180Gln) c.562A>C (p.Lys188Gln) n.253A>C n.756A>C | ClinVar |