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.32343971_32349243dup | CA2580614680 | BRCA2 | c.6842-587_7007+2347dup c.6473-587_6638+2347dup n.6842-587_7007+2347dup c.6841+2775_6911+2347dup | |
| 13 | g.32344743_32352093dup | CA2580614682 | BRCA2 | c.6937+90_7008-2768dup c.6568+90_6639-2768dup n.6937+90_7008-2768dup c.6842-2084_6912-2768dup | |
| 13 | g.32346865_32346890delinsTCTTTAGAGCCGATTACCTGTGTACC | CA2082835789 | BRCA2 | c.6976_7001delinsTCTTTAGAGCCGATTACCTGTGTACC (p.Ser2326=) c.6607_6632delinsTCTTTAGAGCCGATTACCTGTGTACC (p.Ser2203=) n.6976_7001delinsTCTTTAGAGCCGATTACCTGTGTACC c.6880_6905delinsTCTTTAGAGCCGATTACCTGTGTACC (p.Ser2294=) | |
| 13 | g.32346870_32346894del | CA658656387 | BRCA2 | c.6981_7005del (p.Leu2327PhefsTer?) c.6612_6636del (p.Leu2204PhefsTer?) n.6981_7005del c.6885_6909del (p.Leu2295PhefsTer?) | ClinVar dbSNP |
| 13 | g.32346879_32346901delinsTACCTGTGTACCCTTTCGGTAAG | CA2082835953 | BRCA2 | c.6990_7007+5delinsTACCTGTGTACCCTTTCGGTAAG c.6621_6638+5delinsTACCTGTGTACCCTTTCGGTAAG n.6990_7007+5delinsTACCTGTGTACCCTTTCGGTAAG c.6894_6911+5delinsTACCTGTGTACCCTTTCGGTAAG | |
| 13 | g.32346882_32346903del | CA891844180 | BRCA2 | c.6993_7007+7del c.6624_6638+7del n.6993_7007+7del c.6897_6911+7del | ClinVar dbSNP |
| 13 | g.32346886_32346887dup | CA915946861 | BRCA2 | c.6997_6998dup (p.Pro2334TyrfsTer?) c.6628_6629dup (p.Pro2211TyrfsTer?) n.6997_6998dup c.6901_6902dup (p.Pro2302TyrfsTer?) | ClinVar dbSNP |
| 13 | g.32346886_32346887del | CA1139663153 | BRCA2 | c.6997_6998del (p.Val2333ThrfsTer6) c.6628_6629del (p.Val2210ThrfsTer6) n.6997_6998del c.6901_6902del (p.Val2301ThrfsTer6) | ClinVar dbSNP |
| 13 | g.32346884_32346885delinsGT | CA2082835996 | BRCA2 | c.6995_6996delinsGT (p.Cys2332=) c.6626_6627delinsGT (p.Cys2209=) n.6995_6996delinsGT c.6899_6900delinsGT (p.Cys2300=) | |
| 13 | g.32346884_32346893delinsGTGTACCCTT | CA2082836001 | BRCA2 | c.6995_7004delinsGTGTACCCTT (p.Cys2332=) c.6626_6635delinsGTGTACCCTT (p.Cys2209=) n.6995_7004delinsGTGTACCCTT c.6899_6908delinsGTGTACCCTT (p.Cys2300=) | |
| 13 | g.32346885del | CA024680 | BRCA2 | c.6996del (p.Cys2332TrpfsTer?) c.6627del (p.Cys2209TrpfsTer?) n.6996del c.6900del (p.Cys2300TrpfsTer?) | ClinVar dbSNP |
| 13 | g.32346885T>A | CA387793151 | BRCA2 | c.6996T>A (p.Cys2332Ter) c.6627T>A (p.Cys2209Ter) n.6996T>A c.6900T>A (p.Cys2300Ter) | dbSNP |
| 13 | g.32346885T>C | CA024685 | BRCA2 | c.6996T>C (p.Cys2332=) c.6627T>C (p.Cys2209=) n.6996T>C c.6900T>C (p.Cys2300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32346885T>G | CA387793154 | BRCA2 | c.6996T>G (p.Cys2332Trp) c.6627T>G (p.Cys2209Trp) n.6996T>G c.6900T>G (p.Cys2300Trp) | |
| 13 | g.32346885T= | CA2082836012 | BRCA2 | c.6996T= (p.Cys2332=) c.6627T= (p.Cys2209=) n.6996T= c.6900T= (p.Cys2300=) | |
| 13 | g.32346885dup | CA2622599489 | BRCA2 | c.6996dup (p.Val2333CysfsTer7) c.6627dup (p.Val2210CysfsTer7) n.6996dup c.6900dup (p.Val2301CysfsTer7) | gnomAD v4 |
| 13 | g.32346886G>A | CA024688 | BRCA2 | c.6997G>A (p.Val2333Ile) c.6628G>A (p.Val2210Ile) n.6997G>A c.6901G>A (p.Val2301Ile) | ClinVar dbSNP |
| 13 | g.32346886G>C | CA387793158 | BRCA2 | c.6997G>C (p.Val2333Leu) c.6628G>C (p.Val2210Leu) n.6997G>C c.6901G>C (p.Val2301Leu) | ClinVar dbSNP |
| 13 | g.32346886G= | CA2082836023 | BRCA2 | c.6997G= (p.Val2333=) c.6628G= (p.Val2210=) n.6997G= c.6901G= (p.Val2301=) | |
| 13 | g.32346886G>T | CA387793160 | BRCA2 | c.6997G>T (p.Val2333Leu) c.6628G>T (p.Val2210Leu) n.6997G>T c.6901G>T (p.Val2301Leu) | ClinVar dbSNP |
| 13 | g.32346887T>A | CA387793166 | BRCA2 | c.6998T>A (p.Val2333Glu) c.6629T>A (p.Val2210Glu) n.6998T>A c.6902T>A (p.Val2301Glu) | |
| 13 | g.32346887T>C | CA387793165 | BRCA2 | c.6998T>C (p.Val2333Ala) c.6629T>C (p.Val2210Ala) n.6998T>C c.6902T>C (p.Val2301Ala) | ClinVar |
| 13 | g.32346887T>G | CA387793162 | BRCA2 | c.6998T>G (p.Val2333Gly) c.6629T>G (p.Val2210Gly) n.6998T>G c.6902T>G (p.Val2301Gly) | |
| 13 | g.32346887T= | CA2082836043 | BRCA2 | c.6998T= (p.Val2333=) c.6629T= (p.Val2210=) n.6998T= c.6902T= (p.Val2301=) | |
| 13 | g.32346887dup | CA348970 | BRCA2 | c.6998dup (p.Pro2334ThrfsTer6) c.6629dup (p.Pro2211ThrfsTer6) n.6998dup c.6902dup (p.Pro2302ThrfsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32346888A= | CA2082836059 | BRCA2 | c.6999A= (p.Val2333=) c.6630A= (p.Val2210=) n.6999A= c.6903A= (p.Val2301=) | |
| 13 | g.32346888A>C | CA483275791 | BRCA2 | c.6999A>C (p.Val2333=) c.6630A>C (p.Val2210=) n.6999A>C c.6903A>C (p.Val2301=) | |
| 13 | g.32346888A>G | CA483275792 | BRCA2 | c.6999A>G (p.Val2333=) c.6630A>G (p.Val2210=) n.6999A>G c.6903A>G (p.Val2301=) | ClinVar dbSNP |
| 13 | g.32346888A>T | CA483275793 | BRCA2 | c.6999A>T (p.Val2333=) c.6630A>T (p.Val2210=) n.6999A>T c.6903A>T (p.Val2301=) | |
| 13 | g.32346888dup | CA913191191 | BRCA2 | c.6999dup (p.Pro2334ThrfsTer6) c.6630dup (p.Pro2211ThrfsTer6) n.6999dup c.6903dup (p.Pro2302ThrfsTer6) | ClinVar dbSNP |
| 13 | g.32346888_32346889delinsAC | CA2082836058 | BRCA2 | c.6999_7000delinsAC (p.Val2333=) c.6630_6631delinsAC (p.Val2210=) n.6999_7000delinsAC c.6903_6904delinsAC (p.Val2301=) | |
| 13 | g.32346888_32346889insT | CA10589405 | BRCA2 | c.6999_7000insT (p.Pro2334SerfsTer6) c.6630_6631insT (p.Pro2211SerfsTer6) n.6999_7000insT c.6903_6904insT (p.Pro2302SerfsTer6) | ClinVar dbSNP |
| 13 | g.32346889C>A | CA387793171 | BRCA2 | c.7000C>A (p.Pro2334Thr) c.6631C>A (p.Pro2211Thr) n.7000C>A c.6904C>A (p.Pro2302Thr) | dbSNP |
| 13 | g.32346889C>G | CA387793173 | BRCA2 | c.7000C>G (p.Pro2334Ala) c.6631C>G (p.Pro2211Ala) n.7000C>G c.6904C>G (p.Pro2302Ala) | dbSNP |
| 13 | g.32346889C>T | CA387793175 | BRCA2 | c.7000C>T (p.Pro2334Ser) c.6631C>T (p.Pro2211Ser) n.7000C>T c.6904C>T (p.Pro2302Ser) | dbSNP COSMIC COSMIC |
| 13 | g.32346891del | CA10589406 | BRCA2 | c.7002del (p.Arg2336AlafsTer?) c.6633del (p.Arg2213AlafsTer?) n.7002del c.6906del (p.Arg2304AlafsTer?) | ClinVar dbSNP |
| 13 | g.32346890C>A | CA387793178 | BRCA2 | c.7001C>A (p.Pro2334His) c.6632C>A (p.Pro2211His) n.7001C>A c.6905C>A (p.Pro2302His) | gnomAD v4 |
| 13 | g.32346890C= | CA2082836079 | BRCA2 | c.7001C= (p.Pro2334=) c.6632C= (p.Pro2211=) n.7001C= c.6905C= (p.Pro2302=) | |
| 13 | g.32346890C>G | CA387793180 | BRCA2 | c.7001C>G (p.Pro2334Arg) c.6632C>G (p.Pro2211Arg) n.7001C>G c.6905C>G (p.Pro2302Arg) | dbSNP |
| 13 | g.32346890C>T | CA6941037 | BRCA2 | c.7001C>T (p.Pro2334Leu) c.6632C>T (p.Pro2211Leu) n.7001C>T c.6905C>T (p.Pro2302Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32346890_32346891insAAA | CA2622599500 | BRCA2 | c.7001_7002insAAA (p.Pro2334_Phe2335insAsn) c.6632_6633insAAA (p.Pro2211_Phe2212insAsn) n.7001_7002insAAA c.6905_6906insAAA (p.Pro2302_Phe2303insAsn) | gnomAD v4 |
| 13 | g.32346891C>A | CA483275797 | BRCA2 | c.7002C>A (p.Pro2334=) c.6633C>A (p.Pro2211=) n.7002C>A c.6906C>A (p.Pro2302=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32346891C= | CA2082836090 | BRCA2 | c.7002C= (p.Pro2334=) c.6633C= (p.Pro2211=) n.7002C= c.6906C= (p.Pro2302=) | |
| 13 | g.32346891C>G | CA483275798 | BRCA2 | c.7002C>G (p.Pro2334=) c.6633C>G (p.Pro2211=) n.7002C>G c.6906C>G (p.Pro2302=) | dbSNP |
| 13 | g.32346891C>T | CA483275796 | BRCA2 | c.7002C>T (p.Pro2334=) c.6633C>T (p.Pro2211=) n.7002C>T c.6906C>T (p.Pro2302=) | ClinVar dbSNP |
| 13 | g.32346891_32346892delinsCT | CA2082836094 | BRCA2 | c.7002_7003delinsCT (p.Pro2334=) c.6633_6634delinsCT (p.Pro2211=) n.7002_7003delinsCT c.6906_6907delinsCT (p.Pro2302=) | |
| 13 | g.32346891_32346896delinsCTTTCG | CA2082836088 | BRCA2 | c.7002_7007delinsCTTTCG (p.Pro2334=) c.6633_6638delinsCTTTCG (p.Pro2211=) n.7002_7007delinsCTTTCG c.6906_6911delinsCTTTCG (p.Pro2302=) | |
| 13 | g.32346891_32346897delinsCTTTCGG | CA2082836089 | BRCA2 | c.7002_7007+1delinsCTTTCGG c.6633_6638+1delinsCTTTCGG n.7002_7007+1delinsCTTTCGG c.6906_6911+1delinsCTTTCGG | |
| 13 | g.32346891_32346892insA | CA2622599507 | BRCA2 | c.7002_7003insA (p.Phe2335IlefsTer5) c.6633_6634insA (p.Phe2212IlefsTer5) n.7002_7003insA c.6906_6907insA (p.Phe2303IlefsTer5) | gnomAD v4 |
| 13 | g.32346892T>A | CA387793187 | BRCA2 | c.7003T>A (p.Phe2335Ile) c.6634T>A (p.Phe2212Ile) n.7003T>A c.6907T>A (p.Phe2303Ile) |