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.32355016_32355021delinsCAAGAA | CA2082809360 | BRCA2 | c.7163_7168delinsCAAGAA (p.Thr2388=) c.6794_6799delinsCAAGAA (p.Thr2265=) n.7163_7168delinsCAAGAA c.7067_7072delinsCAAGAA (p.Thr2356=) | |
| 13 | g.32355018_32355022del | CA16619758 | BRCA2 | c.7165_7169del (p.Arg2389Ter) c.6796_6800del (p.Arg2266Ter) n.7165_7169del c.7069_7073del (p.Arg2357Ter) | ClinVar dbSNP |
| 13 | g.32355018_32355019delinsAG | CA2082809381 | BRCA2 | c.7165_7166delinsAG (p.Arg2389=) c.6796_6797delinsAG (p.Arg2266=) n.7165_7166delinsAG c.7069_7070delinsAG (p.Arg2357=) | |
| 13 | g.32355019del | CA024917 | BRCA2 | c.7166del (p.Arg2389LysfsTer5) c.6797del (p.Arg2266LysfsTer5) n.7166del c.7070del (p.Arg2357LysfsTer5) | ClinVar dbSNP |
| 13 | g.32355019G>A | CA387739401 | BRCA2 | c.7166G>A (p.Arg2389Lys) c.6797G>A (p.Arg2266Lys) n.7166G>A c.7070G>A (p.Arg2357Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355019G>C | CA387739399 | BRCA2 | c.7166G>C (p.Arg2389Thr) c.6797G>C (p.Arg2266Thr) n.7166G>C c.7070G>C (p.Arg2357Thr) | dbSNP |
| 13 | g.32355019G= | CA2082809393 | BRCA2 | c.7166G= (p.Arg2389=) c.6797G= (p.Arg2266=) n.7166G= c.7070G= (p.Arg2357=) | |
| 13 | g.32355019G>T | CA387739400 | BRCA2 | c.7166G>T (p.Arg2389Ile) c.6797G>T (p.Arg2266Ile) n.7166G>T c.7070G>T (p.Arg2357Ile) | ClinVar dbSNP |
| 13 | g.32355020A>C | CA387739407 | BRCA2 | c.7167A>C (p.Arg2389Ser) c.6798A>C (p.Arg2266Ser) n.7167A>C c.7071A>C (p.Arg2357Ser) | |
| 13 | g.32355020A>G | CA483439637 | BRCA2 | c.7167A>G (p.Arg2389=) c.6798A>G (p.Arg2266=) n.7167A>G c.7071A>G (p.Arg2357=) | |
| 13 | g.32355020A>T | CA387739408 | BRCA2 | c.7167A>T (p.Arg2389Ser) c.6798A>T (p.Arg2266Ser) n.7167A>T c.7071A>T (p.Arg2357Ser) | dbSNP |
| 13 | g.32355021A= | CA2082809405 | BRCA2 | c.7168A= (p.Asn2390=) c.6799A= (p.Asn2267=) n.7168A= c.7072A= (p.Asn2358=) | |
| 13 | g.32355021A>C | CA387739427 | BRCA2 | c.7168A>C (p.Asn2390His) c.6799A>C (p.Asn2267His) n.7168A>C c.7072A>C (p.Asn2358His) | |
| 13 | g.32355021A>G | CA10579725 | BRCA2 | c.7168A>G (p.Asn2390Asp) c.6799A>G (p.Asn2267Asp) n.7168A>G c.7072A>G (p.Asn2358Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355021A>T | CA387739452 | BRCA2 | c.7168A>T (p.Asn2390Tyr) c.6799A>T (p.Asn2267Tyr) n.7168A>T c.7072A>T (p.Asn2358Tyr) | dbSNP |
| 13 | g.32355022A>C | CA387739458 | BRCA2 | c.7169A>C (p.Asn2390Thr) c.6800A>C (p.Asn2267Thr) n.7169A>C c.7073A>C (p.Asn2358Thr) | |
| 13 | g.32355022A>G | CA387739460 | BRCA2 | c.7169A>G (p.Asn2390Ser) c.6800A>G (p.Asn2267Ser) n.7169A>G c.7073A>G (p.Asn2358Ser) | |
| 13 | g.32355022A>T | CA387739464 | BRCA2 | c.7169A>T (p.Asn2390Ile) c.6800A>T (p.Asn2267Ile) n.7169A>T c.7073A>T (p.Asn2358Ile) | dbSNP |
| 13 | g.32355023T>A | CA387739495 | BRCA2 | c.7170T>A (p.Asn2390Lys) c.6801T>A (p.Asn2267Lys) n.7170T>A c.7074T>A (p.Asn2358Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355023T>C | CA483439645 | BRCA2 | c.7170T>C (p.Asn2390=) c.6801T>C (p.Asn2267=) n.7170T>C c.7074T>C (p.Asn2358=) | ClinVar dbSNP |
| 13 | g.32355023T>G | CA387739499 | BRCA2 | c.7170T>G (p.Asn2390Lys) c.6801T>G (p.Asn2267Lys) n.7170T>G c.7074T>G (p.Asn2358Lys) | dbSNP gnomAD v4 |
| 13 | g.32355023T= | CA2082809416 | BRCA2 | c.7170T= (p.Asn2390=) c.6801T= (p.Asn2267=) n.7170T= c.7074T= (p.Asn2358=) | |
| 13 | g.32355024G>A | CA387739509 | BRCA2 | c.7171G>A (p.Glu2391Lys) c.6802G>A (p.Glu2268Lys) n.7171G>A c.7075G>A (p.Glu2359Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32355024G>C | CA387739507 | BRCA2 | c.7171G>C (p.Glu2391Gln) c.6802G>C (p.Glu2268Gln) n.7171G>C c.7075G>C (p.Glu2359Gln) | dbSNP |
| 13 | g.32355024G>T | CA387739504 | BRCA2 | c.7171G>T (p.Glu2391Ter) c.6802G>T (p.Glu2268Ter) n.7171G>T c.7075G>T (p.Glu2359Ter) | ClinVar |
| 13 | g.32355024_32355025delinsGA | CA2082809423 | BRCA2 | c.7171_7172delinsGA (p.Glu2391=) c.6802_6803delinsGA (p.Glu2268=) n.7171_7172delinsGA c.7075_7076delinsGA (p.Glu2359=) | |
| 13 | g.32355025A= | CA2082809427 | BRCA2 | c.7172A= (p.Glu2391=) c.6803A= (p.Glu2268=) n.7172A= c.7076A= (p.Glu2359=) | |
| 13 | g.32355025A>C | CA387739510 | BRCA2 | c.7172A>C (p.Glu2391Ala) c.6803A>C (p.Glu2268Ala) n.7172A>C c.7076A>C (p.Glu2359Ala) | |
| 13 | g.32355025A>G | CA387739512 | BRCA2 | c.7172A>G (p.Glu2391Gly) c.6803A>G (p.Glu2268Gly) n.7172A>G c.7076A>G (p.Glu2359Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355025A>T | CA387739517 | BRCA2 | c.7172A>T (p.Glu2391Val) c.6803A>T (p.Glu2268Val) n.7172A>T c.7076A>T (p.Glu2359Val) | |
| 13 | g.32355030dup | CA024922 | BRCA2 | c.7177dup (p.Met2393AsnfsTer19) c.6808dup (p.Met2270AsnfsTer19) n.7177dup c.7081dup (p.Met2361AsnfsTer19) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355030del | CA1139770422 | BRCA2 | c.7177del (p.Met2393Ter) c.6808del (p.Met2270Ter) n.7177del c.7081del (p.Met2361Ter) | ClinVar dbSNP |
| 13 | g.32355026A= | CA2082809428 | BRCA2 | c.7173A= (p.Glu2391=) c.6804A= (p.Glu2268=) n.7173A= c.7077A= (p.Glu2359=) | |
| 13 | g.32355026A>C | CA387739522 | BRCA2 | c.7173A>C (p.Glu2391Asp) c.6804A>C (p.Glu2268Asp) n.7173A>C c.7077A>C (p.Glu2359Asp) | ClinVar dbSNP |
| 13 | g.32355026A>G | CA483439654 | BRCA2 | c.7173A>G (p.Glu2391=) c.6804A>G (p.Glu2268=) n.7173A>G c.7077A>G (p.Glu2359=) | ClinVar dbSNP |
| 13 | g.32355026A>T | CA387739525 | BRCA2 | c.7173A>T (p.Glu2391Asp) c.6804A>T (p.Glu2268Asp) n.7173A>T c.7077A>T (p.Glu2359Asp) | dbSNP |
| 13 | g.32355027A= | CA2082809432 | BRCA2 | c.7174A= (p.Lys2392=) c.6805A= (p.Lys2269=) n.7174A= c.7078A= (p.Lys2360=) | |
| 13 | g.32355027A>C | CA387739532 | BRCA2 | c.7174A>C (p.Lys2392Gln) c.6805A>C (p.Lys2269Gln) n.7174A>C c.7078A>C (p.Lys2360Gln) | |
| 13 | g.32355027A>G | CA6941066 | BRCA2 | c.7174A>G (p.Lys2392Glu) c.6805A>G (p.Lys2269Glu) n.7174A>G c.7078A>G (p.Lys2360Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355027A>T | CA387739533 | BRCA2 | c.7174A>T (p.Lys2392Ter) c.6805A>T (p.Lys2269Ter) n.7174A>T c.7078A>T (p.Lys2360Ter) | |
| 13 | g.32355028A= | CA2082809433 | BRCA2 | c.7175A= (p.Lys2392=) c.6806A= (p.Lys2269=) n.7175A= c.7079A= (p.Lys2360=) | |
| 13 | g.32355028A>C | CA387739534 | BRCA2 | c.7175A>C (p.Lys2392Thr) c.6806A>C (p.Lys2269Thr) n.7175A>C c.7079A>C (p.Lys2360Thr) | ClinVar dbSNP |
| 13 | g.32355028A>G | CA387739535 | BRCA2 | c.7175A>G (p.Lys2392Arg) c.6806A>G (p.Lys2269Arg) n.7175A>G c.7079A>G (p.Lys2360Arg) | dbSNP |
| 13 | g.32355028A>T | CA387739536 | BRCA2 | c.7175A>T (p.Lys2392Ile) c.6806A>T (p.Lys2269Ile) n.7175A>T c.7079A>T (p.Lys2360Ile) | |
| 13 | g.32355029A>C | CA387739538 | BRCA2 | c.7176A>C (p.Lys2392Asn) c.6807A>C (p.Lys2269Asn) n.7176A>C c.7080A>C (p.Lys2360Asn) | |
| 13 | g.32355029A>G | CA483439658 | BRCA2 | c.7176A>G (p.Lys2392=) c.6807A>G (p.Lys2269=) n.7176A>G c.7080A>G (p.Lys2360=) | |
| 13 | g.32355029A>T | CA387739542 | BRCA2 | c.7176A>T (p.Lys2392Asn) c.6807A>T (p.Lys2269Asn) n.7176A>T c.7080A>T (p.Lys2360Asn) | dbSNP |
| 13 | g.32355030A= | CA2082809434 | BRCA2 | c.7177A= (p.Met2393=) c.6808A= (p.Met2270=) n.7177A= c.7081A= (p.Met2361=) | |
| 13 | g.32355030A>C | CA387739547 | BRCA2 | c.7177A>C (p.Met2393Leu) c.6808A>C (p.Met2270Leu) n.7177A>C c.7081A>C (p.Met2361Leu) |