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.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
| 13 | g.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
| 13 | g.32356564dup | CA915946871 | BRCA2 | c.7572dup (p.Ala2525SerfsTer14) c.7203dup (p.Ala2402SerfsTer14) c.39dup (p.Ala14SerfsTer14) c.137dup n.7572dup c.7476dup (p.Ala2493SerfsTer14) | ClinVar dbSNP |
| 13 | g.32356564A>C | CA387743790 | BRCA2 | c.7572A>C (p.Lys2524Asn) c.7203A>C (p.Lys2401Asn) c.39A>C (p.Lys13Asn) c.137A>C n.7572A>C c.7476A>C (p.Lys2492Asn) | |
| 13 | g.32356564A>G | CA483260432 | BRCA2 | c.7572A>G (p.Lys2524=) c.7203A>G (p.Lys2401=) c.39A>G (p.Lys13=) c.137A>G n.7572A>G c.7476A>G (p.Lys2492=) | |
| 13 | g.32356564A>T | CA387743792 | BRCA2 | c.7572A>T (p.Lys2524Asn) c.7203A>T (p.Lys2401Asn) c.39A>T (p.Lys13Asn) c.137A>T n.7572A>T c.7476A>T (p.Lys2492Asn) | ClinVar dbSNP |
| 13 | g.32356565G>A | CA025160 | BRCA2 | c.7573G>A (p.Ala2525Thr) c.7204G>A (p.Ala2402Thr) c.40G>A (p.Ala14Thr) c.138G>A n.7573G>A c.7477G>A (p.Ala2493Thr) | ClinVar dbSNP |
| 13 | g.32356565G>C | CA387743799 | BRCA2 | c.7573G>C (p.Ala2525Pro) c.7204G>C (p.Ala2402Pro) c.40G>C (p.Ala14Pro) c.138G>C n.7573G>C c.7477G>C (p.Ala2493Pro) | ClinVar dbSNP |
| 13 | g.32356565G= | CA2082815291 | BRCA2 | c.7573G= (p.Ala2525=) c.7204G= (p.Ala2402=) c.40G= (p.Ala14=) c.138G= n.7573G= c.7477G= (p.Ala2493=) | |
| 13 | g.32356565G>T | CA387743796 | BRCA2 | c.7573G>T (p.Ala2525Ser) c.7204G>T (p.Ala2402Ser) c.40G>T (p.Ala14Ser) c.138G>T n.7573G>T c.7477G>T (p.Ala2493Ser) | |
| 13 | g.32356565_32356566del | CA2499222296 | BRCA2 | c.7573_7574del (p.Ala2525SerfsTer13) c.7204_7205del (p.Ala2402SerfsTer13) c.40_41del (p.Ala14SerfsTer13) c.138_139del n.7573_7574del c.7477_7478del (p.Ala2493SerfsTer13) | |
| 13 | g.32356566C>A | CA387743801 | BRCA2 | c.7574C>A (p.Ala2525Glu) c.7205C>A (p.Ala2402Glu) c.41C>A (p.Ala14Glu) c.139C>A n.7574C>A c.7478C>A (p.Ala2493Glu) | |
| 13 | g.32356566C>G | CA387743802 | BRCA2 | c.7574C>G (p.Ala2525Gly) c.7205C>G (p.Ala2402Gly) c.41C>G (p.Ala14Gly) c.139C>G n.7574C>G c.7478C>G (p.Ala2493Gly) | |
| 13 | g.32356566C>T | CA387743804 | BRCA2 | c.7574C>T (p.Ala2525Val) c.7205C>T (p.Ala2402Val) c.41C>T (p.Ala14Val) c.139C>T n.7574C>T c.7478C>T (p.Ala2493Val) | |
| 13 | g.32356566_32356567delinsCA | CA2082815294 | BRCA2 | c.7574_7575delinsCA (p.Ala2525=) c.7205_7206delinsCA (p.Ala2402=) c.41_42delinsCA (p.Ala14=) c.139_140delinsCA n.7574_7575delinsCA c.7478_7479delinsCA (p.Ala2493=) | |
| 13 | g.32356567del | CA10576071 | BRCA2 | c.7575del (p.Ala2526GlnfsTer2) c.7206del (p.Ala2403GlnfsTer2) c.42del (p.Ala15GlnfsTer2) c.140del n.7575del c.7479del (p.Ala2494GlnfsTer2) | ClinVar dbSNP |
| 13 | g.32356567A>C | CA483260435 | BRCA2 | c.7575A>C (p.Ala2525=) c.7206A>C (p.Ala2402=) c.42A>C (p.Ala14=) c.140A>C n.7575A>C c.7479A>C (p.Ala2493=) | |
| 13 | g.32356567A>G | CA483260434 | BRCA2 | c.7575A>G (p.Ala2525=) c.7206A>G (p.Ala2402=) c.42A>G (p.Ala14=) c.140A>G n.7575A>G c.7479A>G (p.Ala2493=) | |
| 13 | g.32356567A>T | CA483260433 | BRCA2 | c.7575A>T (p.Ala2525=) c.7206A>T (p.Ala2402=) c.42A>T (p.Ala14=) c.140A>T n.7575A>T c.7479A>T (p.Ala2493=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356568G>A | CA387743810 | BRCA2 | c.7576G>A (p.Ala2526Thr) c.7207G>A (p.Ala2403Thr) c.43G>A (p.Ala15Thr) c.141G>A n.7576G>A c.7480G>A (p.Ala2494Thr) | ClinVar dbSNP |
| 13 | g.32356568G>C | CA387743812 | BRCA2 | c.7576G>C (p.Ala2526Pro) c.7207G>C (p.Ala2403Pro) c.43G>C (p.Ala15Pro) c.141G>C n.7576G>C c.7480G>C (p.Ala2494Pro) | dbSNP |
| 13 | g.32356568G= | CA2082815304 | BRCA2 | c.7576G= (p.Ala2526=) c.7207G= (p.Ala2403=) c.43G= (p.Ala15=) c.141G= n.7576G= c.7480G= (p.Ala2494=) | |
| 13 | g.32356568G>T | CA387743814 | BRCA2 | c.7576G>T (p.Ala2526Ser) c.7207G>T (p.Ala2403Ser) c.43G>T (p.Ala15Ser) c.141G>T n.7576G>T c.7480G>T (p.Ala2494Ser) | |
| 13 | g.32356569C>A | CA387743815 | BRCA2 | c.7577C>A (p.Ala2526Glu) c.7208C>A (p.Ala2403Glu) c.44C>A (p.Ala15Glu) c.142C>A n.7577C>A c.7481C>A (p.Ala2494Glu) | dbSNP |
| 13 | g.32356569C= | CA2082815312 | BRCA2 | c.7577C= (p.Ala2526=) c.7208C= (p.Ala2403=) c.44C= (p.Ala15=) c.142C= n.7577C= c.7481C= (p.Ala2494=) | |
| 13 | g.32356569C>G | CA387743818 | BRCA2 | c.7577C>G (p.Ala2526Gly) c.7208C>G (p.Ala2403Gly) c.44C>G (p.Ala15Gly) c.142C>G n.7577C>G c.7481C>G (p.Ala2494Gly) | ClinVar dbSNP |
| 13 | g.32356569C>T | CA387743820 | BRCA2 | c.7577C>T (p.Ala2526Val) c.7208C>T (p.Ala2403Val) c.44C>T (p.Ala15Val) c.142C>T n.7577C>T c.7481C>T (p.Ala2494Val) | ClinVar dbSNP |
| 13 | g.32356569_32356571delinsCAG | CA2082815314 | BRCA2 | c.7577_7579delinsCAG (p.Ala2526=) c.7208_7210delinsCAG (p.Ala2403=) c.44_46delinsCAG (p.Ala15=) c.142_144delinsCAG n.7577_7579delinsCAG c.7481_7483delinsCAG (p.Ala2494=) | |
| 13 | g.32356569_32356572del | CA2622571688 | BRCA2 | c.7577_7580del (p.Ala2526GlufsTer24) c.7208_7211del (p.Ala2403GlufsTer24) c.44_47del (p.Ala15GlufsTer24) c.142_145del n.7577_7580del c.7481_7484del (p.Ala2494GlufsTer24) | gnomAD v4 |
| 13 | g.32356569_32356575delinsAGGA | CA2695217911 | BRCA2 | c.7577_7583delinsAGGA (p.Ala2526_Gly2528delinsGluGlu) c.7208_7214delinsAGGA (p.Ala2403_Gly2405delinsGluGlu) c.44_50delinsAGGA (p.Ala15_Gly17delinsGluGlu) c.142_148delinsAGGA n.7577_7583delinsAGGA c.7481_7487delinsAGGA (p.Ala2494_Gly2496delinsGluGlu) | |
| 13 | g.32356570A= | CA2082815321 | BRCA2 | c.7578A= (p.Ala2526=) c.7209A= (p.Ala2403=) c.45A= (p.Ala15=) c.143A= n.7578A= c.7482A= (p.Ala2494=) | |
| 13 | g.32356570A>C | CA483260438 | BRCA2 | c.7578A>C (p.Ala2526=) c.7209A>C (p.Ala2403=) c.45A>C (p.Ala15=) c.143A>C n.7578A>C c.7482A>C (p.Ala2494=) | |
| 13 | g.32356570A>G | CA483260437 | BRCA2 | c.7578A>G (p.Ala2526=) c.7209A>G (p.Ala2403=) c.45A>G (p.Ala15=) c.143A>G n.7578A>G c.7482A>G (p.Ala2494=) | ClinVar gnomAD v4 |
| 13 | g.32356570A>T | CA483260436 | BRCA2 | c.7578A>T (p.Ala2526=) c.7209A>T (p.Ala2403=) c.45A>T (p.Ala15=) c.143A>T n.7578A>T c.7482A>T (p.Ala2494=) | |
| 13 | g.32356570_32356571del | CA1139663193 | BRCA2 | c.7578_7579del (p.Val2527ArgfsTer11) c.7209_7210del (p.Val2404ArgfsTer11) c.45_46del (p.Val16ArgfsTer11) c.143_144del n.7578_7579del c.7482_7483del (p.Val2495ArgfsTer11) | ClinVar dbSNP |
| 13 | g.32356570_32356571delinsAG | CA2082815318 | BRCA2 | c.7578_7579delinsAG (p.Ala2526=) c.7209_7210delinsAG (p.Ala2403=) c.45_46delinsAG (p.Ala15=) c.143_144delinsAG n.7578_7579delinsAG c.7482_7483delinsAG (p.Ala2494=) | |
| 13 | g.32356572_32356574del | CA2573149395 | BRCA2 | c.7580_7582del (p.Val2527del) c.7211_7213del (p.Val2404del) c.47_49del (p.Val16del) c.145_147del n.7580_7582del c.7484_7486del (p.Val2495del) | ClinVar dbSNP |
| 13 | g.32356571del | CA658683852 | BRCA2 | c.7579del (p.Val2527Ter) c.7210del (p.Val2404Ter) c.46del (p.Val16Ter) c.144del n.7579del c.7483del (p.Val2495Ter) | ClinVar dbSNP |
| 13 | g.32356571G>A | CA387743822 | BRCA2 | c.7579G>A (p.Val2527Ile) c.7210G>A (p.Val2404Ile) c.46G>A (p.Val16Ile) c.144G>A n.7579G>A c.7483G>A (p.Val2495Ile) | ClinVar dbSNP |
| 13 | g.32356571G>C | CA387743827 | BRCA2 | c.7579G>C (p.Val2527Leu) c.7210G>C (p.Val2404Leu) c.46G>C (p.Val16Leu) c.144G>C n.7579G>C c.7483G>C (p.Val2495Leu) | dbSNP |
| 13 | g.32356571G= | CA2082815340 | BRCA2 | c.7579G= (p.Val2527=) c.7210G= (p.Val2404=) c.46G= (p.Val16=) c.144G= n.7579G= c.7483G= (p.Val2495=) | |
| 13 | g.32356571G>T | CA387743824 | BRCA2 | c.7579G>T (p.Val2527Leu) c.7210G>T (p.Val2404Leu) c.46G>T (p.Val16Leu) c.144G>T n.7579G>T c.7483G>T (p.Val2495Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356572_32356575dup | CA658656436 | BRCA2 | c.7580_7583dup (p.Gly2529ArgfsTer11) c.7211_7214dup (p.Gly2406ArgfsTer11) c.47_50dup (p.Gly18ArgfsTer11) c.145_148dup n.7580_7583dup c.7484_7487dup (p.Gly2497ArgfsTer11) | ClinVar dbSNP |
| 13 | g.32356572T>A | CA387743828 | BRCA2 | c.7580T>A (p.Val2527Glu) c.7211T>A (p.Val2404Glu) c.47T>A (p.Val16Glu) c.145T>A n.7580T>A c.7484T>A (p.Val2495Glu) | dbSNP |
| 13 | g.32356572T>C | CA025161 | BRCA2 | c.7580T>C (p.Val2527Ala) c.7211T>C (p.Val2404Ala) c.47T>C (p.Val16Ala) c.145T>C n.7580T>C c.7484T>C (p.Val2495Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356572T>G | CA387743833 | BRCA2 | c.7580T>G (p.Val2527Gly) c.7211T>G (p.Val2404Gly) c.47T>G (p.Val16Gly) c.145T>G n.7580T>G c.7484T>G (p.Val2495Gly) | |
| 13 | g.32356572T= | CA2082815355 | BRCA2 | c.7580T= (p.Val2527=) c.7211T= (p.Val2404=) c.47T= (p.Val16=) c.145T= n.7580T= c.7484T= (p.Val2495=) | |
| 13 | g.32356572dup | CA645372940 | BRCA2 | c.7580dup (p.Gly2528ArgfsTer11) c.7211dup (p.Gly2405ArgfsTer11) c.47dup (p.Gly17ArgfsTer11) c.145dup n.7580dup c.7484dup (p.Gly2496ArgfsTer11) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356573A= | CA2082815365 | BRCA2 | c.7581A= (p.Val2527=) c.7212A= (p.Val2404=) c.48A= (p.Val16=) c.146A= n.7581A= c.7485A= (p.Val2495=) | |
| 13 | g.32356573A>C | CA483260441 | BRCA2 | c.7581A>C (p.Val2527=) c.7212A>C (p.Val2404=) c.48A>C (p.Val16=) c.146A>C n.7581A>C c.7485A>C (p.Val2495=) |