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 |
|---|---|---|---|---|---|
| 13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32354876_32354897delinsTCAAGAGATACAGAATCCAAAT | CA2082851616 | BRCA2 | c.7023_7044delinsTCAAGAGATACAGAATCCAAAT (p.Arg2341=) c.6654_6675delinsTCAAGAGATACAGAATCCAAAT (p.Arg2218=) n.7023_7044delinsTCAAGAGATACAGAATCCAAAT c.6927_6948delinsTCAAGAGATACAGAATCCAAAT (p.Arg2309=) | |
| 13 | g.32354877_32354897delinsTG | CA10589409 | BRCA2 | c.7024_7044delinsTG (p.Gln2342CysfsTer19) c.6655_6675delinsTG (p.Gln2219CysfsTer19) n.7024_7044delinsTG c.6928_6948delinsTG (p.Gln2310CysfsTer19) | ClinVar dbSNP |
| 13 | g.32354887A= | CA2082851695 | BRCA2 | c.7034A= (p.Gln2345=) c.6665A= (p.Gln2222=) n.7034A= c.6938A= (p.Gln2313=) | |
| 13 | g.32354887A>C | CA387738119 | BRCA2 | c.7034A>C (p.Gln2345Pro) c.6665A>C (p.Gln2222Pro) n.7034A>C c.6938A>C (p.Gln2313Pro) | |
| 13 | g.32354887A>G | CA10577488 | BRCA2 | c.7034A>G (p.Gln2345Arg) c.6665A>G (p.Gln2222Arg) n.7034A>G c.6938A>G (p.Gln2313Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354887A>T | CA387738120 | BRCA2 | c.7034A>T (p.Gln2345Leu) c.6665A>T (p.Gln2222Leu) n.7034A>T c.6938A>T (p.Gln2313Leu) | |
| 13 | g.32354888G>A | CA483439326 | BRCA2 | c.7035G>A (p.Gln2345=) c.6666G>A (p.Gln2222=) n.7035G>A c.6939G>A (p.Gln2313=) | dbSNP |
| 13 | g.32354888G>C | CA387738121 | BRCA2 | c.7035G>C (p.Gln2345His) c.6666G>C (p.Gln2222His) n.7035G>C c.6939G>C (p.Gln2313His) | dbSNP COSMIC COSMIC |
| 13 | g.32354888G>T | CA387738123 | BRCA2 | c.7035G>T (p.Gln2345His) c.6666G>T (p.Gln2222His) n.7035G>T c.6939G>T (p.Gln2313His) | |
| 13 | g.32354888_32354889delinsGA | CA2082851701 | BRCA2 | c.7035_7036delinsGA (p.Gln2345=) c.6666_6667delinsGA (p.Gln2222=) n.7035_7036delinsGA c.6939_6940delinsGA (p.Gln2313=) | |
| 13 | g.32354889A>C | CA387738128 | BRCA2 | c.7036A>C (p.Asn2346His) c.6667A>C (p.Asn2223His) n.7036A>C c.6940A>C (p.Asn2314His) | |
| 13 | g.32354889A>G | CA387738126 | BRCA2 | c.7036A>G (p.Asn2346Asp) c.6667A>G (p.Asn2223Asp) n.7036A>G c.6940A>G (p.Asn2314Asp) | |
| 13 | g.32354889A>T | CA387738127 | BRCA2 | c.7036A>T (p.Asn2346Tyr) c.6667A>T (p.Asn2223Tyr) n.7036A>T c.6940A>T (p.Asn2314Tyr) | |
| 13 | g.32354890del | CA10586567 | BRCA2 | c.7037del (p.Asn2346IlefsTer21) c.6668del (p.Asn2223IlefsTer21) n.7037del c.6941del (p.Asn2314IlefsTer21) | ClinVar dbSNP |
| 13 | g.32354889_32354892del | CA2580087374 | BRCA2 | c.7036_7039del (p.Asn2346GlnfsTer20) c.6667_6670del (p.Asn2223GlnfsTer20) n.7036_7039del c.6940_6943del (p.Asn2314GlnfsTer20) | ClinVar |
| 13 | g.32354890A= | CA2082851708 | BRCA2 | c.7037A= (p.Asn2346=) c.6668A= (p.Asn2223=) n.7037A= c.6941A= (p.Asn2314=) | |
| 13 | g.32354890A>C | CA387738130 | BRCA2 | c.7037A>C (p.Asn2346Thr) c.6668A>C (p.Asn2223Thr) n.7037A>C c.6941A>C (p.Asn2314Thr) | |
| 13 | g.32354890A>G | CA024780 | BRCA2 | c.7037A>G (p.Asn2346Ser) c.6668A>G (p.Asn2223Ser) n.7037A>G c.6941A>G (p.Asn2314Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354890A>T | CA387738132 | BRCA2 | c.7037A>T (p.Asn2346Ile) c.6668A>T (p.Asn2223Ile) n.7037A>T c.6941A>T (p.Asn2314Ile) | dbSNP |
| 13 | g.32354891T>A | CA387738133 | BRCA2 | c.7038T>A (p.Asn2346Lys) c.6669T>A (p.Asn2223Lys) n.7038T>A c.6942T>A (p.Asn2314Lys) | dbSNP |
| 13 | g.32354891T>C | CA483439333 | BRCA2 | c.7038T>C (p.Asn2346=) c.6669T>C (p.Asn2223=) n.7038T>C c.6942T>C (p.Asn2314=) | ClinVar |
| 13 | g.32354891T>G | CA387738135 | BRCA2 | c.7038T>G (p.Asn2346Lys) c.6669T>G (p.Asn2223Lys) n.7038T>G c.6942T>G (p.Asn2314Lys) | |
| 13 | g.32354892C>A | CA387738136 | BRCA2 | c.7039C>A (p.Pro2347Thr) c.6670C>A (p.Pro2224Thr) n.7039C>A c.6943C>A (p.Pro2315Thr) | gnomAD v4 |
| 13 | g.32354892C= | CA2082851711 | BRCA2 | c.7039C= (p.Pro2347=) c.6670C= (p.Pro2224=) n.7039C= c.6943C= (p.Pro2315=) | |
| 13 | g.32354892C>G | CA10579720 | BRCA2 | c.7039C>G (p.Pro2347Ala) c.6670C>G (p.Pro2224Ala) n.7039C>G c.6943C>G (p.Pro2315Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32354892C>T | CA387738139 | BRCA2 | c.7039C>T (p.Pro2347Ser) c.6670C>T (p.Pro2224Ser) n.7039C>T c.6943C>T (p.Pro2315Ser) | |
| 13 | g.32354893C>A | CA024783 | BRCA2 | c.7040C>A (p.Pro2347Gln) c.6671C>A (p.Pro2224Gln) n.7040C>A c.6944C>A (p.Pro2315Gln) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354893C= | CA2082851720 | BRCA2 | c.7040C= (p.Pro2347=) c.6671C= (p.Pro2224=) n.7040C= c.6944C= (p.Pro2315=) | |
| 13 | g.32354893C>G | CA387738141 | BRCA2 | c.7040C>G (p.Pro2347Arg) c.6671C>G (p.Pro2224Arg) n.7040C>G c.6944C>G (p.Pro2315Arg) | dbSNP |
| 13 | g.32354893C>T | CA387738142 | BRCA2 | c.7040C>T (p.Pro2347Leu) c.6671C>T (p.Pro2224Leu) n.7040C>T c.6944C>T (p.Pro2315Leu) | dbSNP |
| 13 | g.32354894A>C | CA483439336 | BRCA2 | c.7041A>C (p.Pro2347=) c.6672A>C (p.Pro2224=) n.7041A>C c.6945A>C (p.Pro2315=) | |
| 13 | g.32354894A>G | CA483439337 | BRCA2 | c.7041A>G (p.Pro2347=) c.6672A>G (p.Pro2224=) n.7041A>G c.6945A>G (p.Pro2315=) | dbSNP |
| 13 | g.32354894A>T | CA483439338 | BRCA2 | c.7041A>T (p.Pro2347=) c.6672A>T (p.Pro2224=) n.7041A>T c.6945A>T (p.Pro2315=) | dbSNP |
| 13 | g.32354895A= | CA2082851725 | BRCA2 | c.7042A= (p.Asn2348=) c.6673A= (p.Asn2225=) n.7042A= c.6946A= (p.Asn2316=) | |
| 13 | g.32354895A>C | CA6941053 | BRCA2 | c.7042A>C (p.Asn2348His) c.6673A>C (p.Asn2225His) n.7042A>C c.6946A>C (p.Asn2316His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354895A>G | CA387738145 | BRCA2 | c.7042A>G (p.Asn2348Asp) c.6673A>G (p.Asn2225Asp) n.7042A>G c.6946A>G (p.Asn2316Asp) | |
| 13 | g.32354895A>T | CA387738146 | BRCA2 | c.7042A>T (p.Asn2348Tyr) c.6673A>T (p.Asn2225Tyr) n.7042A>T c.6946A>T (p.Asn2316Tyr) | dbSNP |
| 13 | g.32354896A= | CA2082851740 | BRCA2 | c.7043A= (p.Asn2348=) c.6674A= (p.Asn2225=) n.7043A= c.6947A= (p.Asn2316=) | |
| 13 | g.32354896A>C | CA387738151 | BRCA2 | c.7043A>C (p.Asn2348Thr) c.6674A>C (p.Asn2225Thr) n.7043A>C c.6947A>C (p.Asn2316Thr) | |
| 13 | g.32354896A>G | CA6941054 | BRCA2 | c.7043A>G (p.Asn2348Ser) c.6674A>G (p.Asn2225Ser) n.7043A>G c.6947A>G (p.Asn2316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354896A>T | CA387738149 | BRCA2 | c.7043A>T (p.Asn2348Ile) c.6674A>T (p.Asn2225Ile) n.7043A>T c.6947A>T (p.Asn2316Ile) | |
| 13 | g.32354896_32354897delinsAT | CA2082851734 | BRCA2 | c.7043_7044delinsAT (p.Asn2348=) c.6674_6675delinsAT (p.Asn2225=) n.7043_7044delinsAT c.6947_6948delinsAT (p.Asn2316=) | |
| 13 | g.32354896_32354902delinsATTTTAC | CA2082851736 | BRCA2 | c.7043_7049delinsATTTTAC (p.Asn2348=) c.6674_6680delinsATTTTAC (p.Asn2225=) n.7043_7049delinsATTTTAC c.6947_6953delinsATTTTAC (p.Asn2316=) | |
| 13 | g.32354897T>A | CA387738152 | BRCA2 | c.7044T>A (p.Asn2348Lys) c.6675T>A (p.Asn2225Lys) n.7044T>A c.6948T>A (p.Asn2316Lys) | dbSNP |
| 13 | g.32354897T>C | CA483439340 | BRCA2 | c.7044T>C (p.Asn2348=) c.6675T>C (p.Asn2225=) n.7044T>C c.6948T>C (p.Asn2316=) | |
| 13 | g.32354897T>G | CA387738154 | BRCA2 | c.7044T>G (p.Asn2348Lys) c.6675T>G (p.Asn2225Lys) n.7044T>G c.6948T>G (p.Asn2316Lys) | dbSNP |
| 13 | g.32354900del | CA024786 | BRCA2 | c.7047del (p.Phe2349LeufsTer18) c.6678del (p.Phe2226LeufsTer18) n.7047del c.6951del (p.Phe2317LeufsTer18) | ClinVar dbSNP |
| 13 | g.32354897_32354902del | CA1139663160 | BRCA2 | c.7044_7049del (p.Phe2349_Thr2350del) c.6675_6680del (p.Phe2226_Thr2227del) n.7044_7049del c.6948_6953del (p.Phe2317_Thr2318del) | ClinVar dbSNP |
| 13 | g.32354898T>A | CA387738157 | BRCA2 | c.7045T>A (p.Phe2349Ile) c.6676T>A (p.Phe2226Ile) n.7045T>A c.6949T>A (p.Phe2317Ile) | dbSNP |