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.32354860G>A | CA024727 | BRCA2 | c.7008-1G>A (n.7008-1G>A) c.6639-1G>A (n.6639-1G>A) n.7008-1G>A c.6912-1G>A (n.6912-1G>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354860G>C | CA387794065 | BRCA2 | c.7008-1G>C (n.7008-1G>C) c.6639-1G>C (n.6639-1G>C) n.7008-1G>C c.6912-1G>C (n.6912-1G>C) | ClinVar dbSNP |
| 13 | g.32354860G= | CA2082851513 | BRCA2 | c.7008-1G= (n.7008-1G=) c.6639-1G= (n.6639-1G=) n.7008-1G= c.6912-1G= (n.6912-1G=) | |
| 13 | g.32354860G>T | CA10602537 | BRCA2 | c.7008-1G>T (n.7008-1G>T) c.6639-1G>T (n.6639-1G>T) n.7008-1G>T c.6912-1G>T (n.6912-1G>T) | ClinVar dbSNP |
| 13 | g.32354861C>A | CA483275974 | BRCA2 | c.7008C>A (p.Arg2336=) c.6639C>A (p.Arg2213=) n.7008C>A c.6912C>A (p.Arg2304=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354861C= | CA2082851521 | BRCA2 | c.7008C= (p.Arg2336=) c.6639C= (p.Arg2213=) n.7008C= c.6912C= (p.Arg2304=) | |
| 13 | g.32354861C>G | CA483275975 | BRCA2 | c.7008C>G (p.Arg2336=) c.6639C>G (p.Arg2213=) n.7008C>G c.6912C>G (p.Arg2304=) | dbSNP |
| 13 | g.32354861C>T | CA483275976 | BRCA2 | c.7008C>T (p.Arg2336=) c.6639C>T (p.Arg2213=) n.7008C>T c.6912C>T (p.Arg2304=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354862A= | CA2082851533 | BRCA2 | c.7009A= (p.Thr2337=) c.6640A= (p.Thr2214=) n.7009A= c.6913A= (p.Thr2305=) | |
| 13 | g.32354862A>C | CA387794068 | BRCA2 | c.7009A>C (p.Thr2337Pro) c.6640A>C (p.Thr2214Pro) n.7009A>C c.6913A>C (p.Thr2305Pro) | ClinVar |
| 13 | g.32354862A>G | CA024746 | BRCA2 | c.7009A>G (p.Thr2337Ala) c.6640A>G (p.Thr2214Ala) n.7009A>G c.6913A>G (p.Thr2305Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354862A>T | CA387794070 | BRCA2 | c.7009A>T (p.Thr2337Ser) c.6640A>T (p.Thr2214Ser) n.7009A>T c.6913A>T (p.Thr2305Ser) | dbSNP |
| 13 | g.32354863C>A | CA387794072 | BRCA2 | c.7010C>A (p.Thr2337Lys) c.6641C>A (p.Thr2214Lys) n.7010C>A c.6914C>A (p.Thr2305Lys) | gnomAD v4 |
| 13 | g.32354863C= | CA2082851541 | BRCA2 | c.7010C= (p.Thr2337=) c.6641C= (p.Thr2214=) n.7010C= c.6914C= (p.Thr2305=) | |
| 13 | g.32354863C>G | CA387794074 | BRCA2 | c.7010C>G (p.Thr2337Arg) c.6641C>G (p.Thr2214Arg) n.7010C>G c.6914C>G (p.Thr2305Arg) | dbSNP |
| 13 | g.32354863C>T | CA024752 | BRCA2 | c.7010C>T (p.Thr2337Ile) c.6641C>T (p.Thr2214Ile) n.7010C>T c.6914C>T (p.Thr2305Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354864A= | CA2082851551 | BRCA2 | c.7011A= (p.Thr2337=) c.6642A= (p.Thr2214=) n.7011A= c.6915A= (p.Thr2305=) | |
| 13 | g.32354864A>C | CA483275977 | BRCA2 | c.7011A>C (p.Thr2337=) c.6642A>C (p.Thr2214=) n.7011A>C c.6915A>C (p.Thr2305=) | |
| 13 | g.32354864A>G | CA483275978 | BRCA2 | c.7011A>G (p.Thr2337=) c.6642A>G (p.Thr2214=) n.7011A>G c.6915A>G (p.Thr2305=) | |
| 13 | g.32354864A>T | CA483275979 | BRCA2 | c.7011A>T (p.Thr2337=) c.6642A>T (p.Thr2214=) n.7011A>T c.6915A>T (p.Thr2305=) | ClinVar dbSNP |
| 13 | g.32354865A>C | CA387794079 | BRCA2 | c.7012A>C (p.Thr2338Pro) c.6643A>C (p.Thr2215Pro) n.7012A>C c.6916A>C (p.Thr2306Pro) | |
| 13 | g.32354865A>G | CA387794081 | BRCA2 | c.7012A>G (p.Thr2338Ala) c.6643A>G (p.Thr2215Ala) n.7012A>G c.6916A>G (p.Thr2306Ala) | ClinVar gnomAD v4 |
| 13 | g.32354865A>T | CA387794077 | BRCA2 | c.7012A>T (p.Thr2338Ser) c.6643A>T (p.Thr2215Ser) n.7012A>T c.6916A>T (p.Thr2306Ser) | dbSNP |
| 13 | g.32354866C>A | CA387794084 | BRCA2 | c.7013C>A (p.Thr2338Asn) c.6644C>A (p.Thr2215Asn) n.7013C>A c.6917C>A (p.Thr2306Asn) | dbSNP gnomAD v4 |
| 13 | g.32354866C= | CA2082851559 | BRCA2 | c.7013C= (p.Thr2338=) c.6644C= (p.Thr2215=) n.7013C= c.6917C= (p.Thr2306=) | |
| 13 | g.32354866C>G | CA387794082 | BRCA2 | c.7013C>G (p.Thr2338Ser) c.6644C>G (p.Thr2215Ser) n.7013C>G c.6917C>G (p.Thr2306Ser) | ClinVar dbSNP |
| 13 | g.32354866C>T | CA387794083 | BRCA2 | c.7013C>T (p.Thr2338Ile) c.6644C>T (p.Thr2215Ile) n.7013C>T c.6917C>T (p.Thr2306Ile) | dbSNP |
| 13 | g.32354867T>A | CA483275980 | BRCA2 | c.7014T>A (p.Thr2338=) c.6645T>A (p.Thr2215=) n.7014T>A c.6918T>A (p.Thr2306=) | |
| 13 | g.32354867T>C | CA483275981 | BRCA2 | c.7014T>C (p.Thr2338=) c.6645T>C (p.Thr2215=) n.7014T>C c.6918T>C (p.Thr2306=) | |
| 13 | g.32354867T>G | CA483275982 | BRCA2 | c.7014T>G (p.Thr2338=) c.6645T>G (p.Thr2215=) n.7014T>G c.6918T>G (p.Thr2306=) | |
| 13 | g.32354868A= | CA2082851564 | BRCA2 | c.7015A= (p.Lys2339=) c.6646A= (p.Lys2216=) n.7015A= c.6919A= (p.Lys2307=) | |
| 13 | g.32354868A>C | CA387794086 | BRCA2 | c.7015A>C (p.Lys2339Gln) c.6646A>C (p.Lys2216Gln) n.7015A>C c.6919A>C (p.Lys2307Gln) | gnomAD v4 |
| 13 | g.32354868A>G | CA387794087 | BRCA2 | c.7015A>G (p.Lys2339Glu) c.6646A>G (p.Lys2216Glu) n.7015A>G c.6919A>G (p.Lys2307Glu) | ClinVar dbSNP |
| 13 | g.32354868A>T | CA387794088 | BRCA2 | c.7015A>T (p.Lys2339Ter) c.6646A>T (p.Lys2216Ter) n.7015A>T c.6919A>T (p.Lys2307Ter) | dbSNP |
| 13 | g.32354869A>C | CA387794089 | BRCA2 | c.7016A>C (p.Lys2339Thr) c.6647A>C (p.Lys2216Thr) n.7016A>C c.6920A>C (p.Lys2307Thr) | |
| 13 | g.32354869A>G | CA387794091 | BRCA2 | c.7016A>G (p.Lys2339Arg) c.6647A>G (p.Lys2216Arg) n.7016A>G c.6920A>G (p.Lys2307Arg) | |
| 13 | g.32354869A>T | CA387794093 | BRCA2 | c.7016A>T (p.Lys2339Met) c.6647A>T (p.Lys2216Met) n.7016A>T c.6920A>T (p.Lys2307Met) | dbSNP |
| 13 | g.32354869_32354870delinsAG | CA2082851574 | BRCA2 | c.7016_7017delinsAG (p.Lys2339=) c.6647_6648delinsAG (p.Lys2216=) n.7016_7017delinsAG c.6920_6921delinsAG (p.Lys2307=) | |
| 13 | g.32354870G>A | CA483275983 | BRCA2 | c.7017G>A (p.Lys2339=) c.6648G>A (p.Lys2216=) n.7017G>A c.6921G>A (p.Lys2307=) | dbSNP COSMIC COSMIC |
| 13 | g.32354870G>C | CA024755 | BRCA2 | c.7017G>C (p.Lys2339Asn) c.6648G>C (p.Lys2216Asn) n.7017G>C c.6921G>C (p.Lys2307Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354870G= | CA2082851583 | BRCA2 | c.7017G= (p.Lys2339=) c.6648G= (p.Lys2216=) n.7017G= c.6921G= (p.Lys2307=) | |
| 13 | g.32354870G>T | CA387794095 | BRCA2 | c.7017G>T (p.Lys2339Asn) c.6648G>T (p.Lys2216Asn) n.7017G>T c.6921G>T (p.Lys2307Asn) | dbSNP |
| 13 | g.32354871del | CA1139663158 | BRCA2 | c.7018del (p.Glu2340AsnfsTer27) c.6649del (p.Glu2217AsnfsTer27) n.7018del c.6922del (p.Glu2308AsnfsTer27) | ClinVar dbSNP |
| 13 | g.32354871G>A | CA387794097 | BRCA2 | c.7018G>A (p.Glu2340Lys) c.6649G>A (p.Glu2217Lys) n.7018G>A c.6922G>A (p.Glu2308Lys) | dbSNP |
| 13 | g.32354871G>C | CA387794099 | BRCA2 | c.7018G>C (p.Glu2340Gln) c.6649G>C (p.Glu2217Gln) n.7018G>C c.6922G>C (p.Glu2308Gln) | ClinVar dbSNP |
| 13 | g.32354871G>T | CA387794103 | BRCA2 | c.7018G>T (p.Glu2340Ter) c.6649G>T (p.Glu2217Ter) n.7018G>T c.6922G>T (p.Glu2308Ter) | ClinVar dbSNP |
| 13 | g.32354872A>C | CA387794110 | BRCA2 | c.7019A>C (p.Glu2340Ala) c.6650A>C (p.Glu2217Ala) n.7019A>C c.6923A>C (p.Glu2308Ala) | |
| 13 | g.32354872A>G | CA387794109 | BRCA2 | c.7019A>G (p.Glu2340Gly) c.6650A>G (p.Glu2217Gly) n.7019A>G c.6923A>G (p.Glu2308Gly) | |
| 13 | g.32354872A>T | CA387794105 | BRCA2 | c.7019A>T (p.Glu2340Val) c.6650A>T (p.Glu2217Val) n.7019A>T c.6923A>T (p.Glu2308Val) | dbSNP |