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.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32330917_32331031del | CA2499222059 | BRCA2 | c.682-2_793+1del c.313-2_424+1del c.*461-2_*572+1del n.880-2_991+1del n.682-2_793+1del | ClinVar dbSNP |
| 13 | g.32330948_32330950del | CA10579469 | BRCA2 | c.711_713del (p.Asp237del) c.342_344del (p.Asp114del) c.*490_*492del (n.*490_*492del) n.909_911del n.711_713del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330949_32330950delinsGA | CA2082759107 | BRCA2 | c.712_713delinsGA (p.Glu238=) c.343_344delinsGA (p.Glu115=) c.*491_*492delinsGA (n.*491_*492delinsGA) n.910_911delinsGA n.712_713delinsGA | |
| 13 | g.32330950A= | CA2082759125 | BRCA2 | c.713A= (p.Glu238=) c.344A= (p.Glu115=) c.*492A= (n.*492A=) n.911A= n.713A= | |
| 13 | g.32330950A>C | CA387759957 | BRCA2 | c.713A>C (p.Glu238Ala) c.344A>C (p.Glu115Ala) c.*492A>C (n.*492A>C) n.911A>C n.713A>C | gnomAD v4 |
| 13 | g.32330950A>G | CA387759955 | BRCA2 | c.713A>G (p.Glu238Gly) c.344A>G (p.Glu115Gly) c.*492A>G (n.*492A>G) n.911A>G n.713A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32330950A>T | CA387759953 | BRCA2 | c.713A>T (p.Glu238Val) c.344A>T (p.Glu115Val) c.*492A>T (n.*492A>T) n.911A>T n.713A>T | ClinVar dbSNP |
| 13 | g.32330952dup | CA10589042 | BRCA2 | c.715dup (p.Ser239LysfsTer6) c.346dup (p.Ser116LysfsTer6) c.*494dup (n.*494dup) n.913dup n.715dup | ClinVar dbSNP |
| 13 | g.32330952del | CA024913 | BRCA2 | c.715del (p.Ser239ValfsTer2) c.346del (p.Ser116ValfsTer2) c.*494del (n.*494del) n.913del n.715del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330951A>C | CA387759962 | BRCA2 | c.714A>C (p.Glu238Asp) c.345A>C (p.Glu115Asp) c.*493A>C (n.*493A>C) n.912A>C n.714A>C | |
| 13 | g.32330951A>G | CA483274415 | BRCA2 | c.714A>G (p.Glu238=) c.345A>G (p.Glu115=) c.*493A>G (n.*493A>G) n.912A>G n.714A>G | dbSNP |
| 13 | g.32330951A>T | CA387759964 | BRCA2 | c.714A>T (p.Glu238Asp) c.345A>T (p.Glu115Asp) c.*493A>T (n.*493A>T) n.912A>T n.714A>T | dbSNP |
| 13 | g.32330951_32330953dup | CA024898 | BRCA2 | c.714_716dup (p.Glu238_Ser239insArg) c.345_347dup (p.Glu115_Ser116insArg) c.*493_*495dup (n.*493_*495dup) n.912_914dup n.714_716dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330952A= | CA2082759132 | BRCA2 | c.715A= (p.Ser239=) c.346A= (p.Ser116=) c.*494A= (n.*494A=) n.913A= n.715A= | |
| 13 | g.32330952A>C | CA387759966 | BRCA2 | c.715A>C (p.Ser239Arg) c.346A>C (p.Ser116Arg) c.*494A>C (n.*494A>C) n.913A>C n.715A>C | |
| 13 | g.32330952A>G | CA387759968 | BRCA2 | c.715A>G (p.Ser239Gly) c.346A>G (p.Ser116Gly) c.*494A>G (n.*494A>G) n.913A>G n.715A>G | ClinVar dbSNP |
| 13 | g.32330952A>T | CA387759969 | BRCA2 | c.715A>T (p.Ser239Cys) c.346A>T (p.Ser116Cys) c.*494A>T (n.*494A>T) n.913A>T n.715A>T | dbSNP |
| 13 | g.32330953del | CA2580087072 | BRCA2 | c.716del (p.Ser239IlefsTer2) c.347del (p.Ser116IlefsTer2) c.*495del (n.*495del) n.914del n.716del | ClinVar gnomAD v4 |
| 13 | g.32330953G>A | CA387759971 | BRCA2 | c.716G>A (p.Ser239Asn) c.347G>A (p.Ser116Asn) c.*495G>A (n.*495G>A) n.914G>A n.716G>A | dbSNP gnomAD v4 |
| 13 | g.32330953G>C | CA387759973 | BRCA2 | c.716G>C (p.Ser239Thr) c.347G>C (p.Ser116Thr) c.*495G>C (n.*495G>C) n.914G>C n.716G>C | dbSNP |
| 13 | g.32330953G= | CA2082759137 | BRCA2 | c.716G= (p.Ser239=) c.347G= (p.Ser116=) c.*495G= (n.*495G=) n.914G= n.716G= | |
| 13 | g.32330953G>T | CA387759974 | BRCA2 | c.716G>T (p.Ser239Ile) c.347G>T (p.Ser116Ile) c.*495G>T (n.*495G>T) n.914G>T n.716G>T | ClinVar |
| 13 | g.32330953_32330955delinsGTC | CA2082759139 | BRCA2 | c.716_718delinsGTC (p.Ser239=) c.347_349delinsGTC (p.Ser116=) c.*495_*497delinsGTC (n.*495_*497delinsGTC) n.914_916delinsGTC n.716_718delinsGTC | |
| 13 | g.32330954T>A | CA387759976 | BRCA2 | c.717T>A (p.Ser239Arg) c.348T>A (p.Ser116Arg) c.*496T>A (n.*496T>A) n.915T>A n.717T>A | dbSNP |
| 13 | g.32330954T>C | CA483274416 | BRCA2 | c.717T>C (p.Ser239=) c.348T>C (p.Ser116=) c.*496T>C (n.*496T>C) n.915T>C n.717T>C | ClinVar dbSNP |
| 13 | g.32330954T>G | CA387759977 | BRCA2 | c.717T>G (p.Ser239Arg) c.348T>G (p.Ser116Arg) c.*496T>G (n.*496T>G) n.915T>G n.717T>G | |
| 13 | g.32330955_32330956del | CA658683831 | BRCA2 | c.718_719del (p.Leu240GlufsTer4) c.349_350del (p.Leu117GlufsTer4) c.*497_*498del (n.*497_*498del) n.916_917del n.718_719del | ClinVar dbSNP |
| 13 | g.32330955C>A | CA387759979 | BRCA2 | c.718C>A (p.Leu240Met) c.349C>A (p.Leu117Met) c.*497C>A (n.*497C>A) n.916C>A n.718C>A | dbSNP |
| 13 | g.32330955C>G | CA387759981 | BRCA2 | c.718C>G (p.Leu240Val) c.349C>G (p.Leu117Val) c.*497C>G (n.*497C>G) n.916C>G n.718C>G | dbSNP |
| 13 | g.32330955C>T | CA483274417 | BRCA2 | c.718C>T (p.Leu240=) c.349C>T (p.Leu117=) c.*497C>T (n.*497C>T) n.916C>T n.718C>T | dbSNP |
| 13 | g.32330956T>A | CA387759982 | BRCA2 | c.719T>A (p.Leu240Gln) c.350T>A (p.Leu117Gln) c.*498T>A (n.*498T>A) n.917T>A n.719T>A | |
| 13 | g.32330956T>C | CA387759983 | BRCA2 | c.719T>C (p.Leu240Pro) c.350T>C (p.Leu117Pro) c.*498T>C (n.*498T>C) n.917T>C n.719T>C | |
| 13 | g.32330956T>G | CA387759984 | BRCA2 | c.719T>G (p.Leu240Arg) c.350T>G (p.Leu117Arg) c.*498T>G (n.*498T>G) n.917T>G n.719T>G | |
| 13 | g.32330957G>A | CA483274419 | BRCA2 | c.720G>A (p.Leu240=) c.351G>A (p.Leu117=) c.*499G>A (n.*499G>A) n.918G>A n.720G>A | dbSNP |
| 13 | g.32330957G>C | CA483274420 | BRCA2 | c.720G>C (p.Leu240=) c.351G>C (p.Leu117=) c.*499G>C (n.*499G>C) n.918G>C n.720G>C | dbSNP |
| 13 | g.32330957G>T | CA483274421 | BRCA2 | c.720G>T (p.Leu240=) c.351G>T (p.Leu117=) c.*499G>T (n.*499G>T) n.918G>T n.720G>T | ClinVar |
| 13 | g.32330958A= | CA2082759144 | BRCA2 | c.721A= (p.Lys241=) c.352A= (p.Lys118=) c.*500A= (n.*500A=) n.919A= n.721A= | |
| 13 | g.32330958A>C | CA387759989 | BRCA2 | c.721A>C (p.Lys241Gln) c.352A>C (p.Lys118Gln) c.*500A>C (n.*500A>C) n.919A>C n.721A>C | |
| 13 | g.32330958A>G | CA387759987 | BRCA2 | c.721A>G (p.Lys241Glu) c.352A>G (p.Lys118Glu) c.*500A>G (n.*500A>G) n.919A>G n.721A>G | gnomAD v4 |
| 13 | g.32330958A>T | CA10579470 | BRCA2 | c.721A>T (p.Lys241Ter) c.352A>T (p.Lys118Ter) c.*500A>T (n.*500A>T) n.919A>T n.721A>T | ClinVar dbSNP |
| 13 | g.32330959del | CA2499222060 | BRCA2 | c.722del (p.Lys241ArgfsTer10) c.353del (p.Lys118ArgfsTer10) c.*501del (n.*501del) n.920del n.722del | ClinVar dbSNP |
| 13 | g.32330959A= | CA2082759153 | BRCA2 | c.722A= (p.Lys241=) c.353A= (p.Lys118=) c.*501A= (n.*501A=) n.920A= n.722A= | |
| 13 | g.32330959A>C | CA387759990 | BRCA2 | c.722A>C (p.Lys241Thr) c.353A>C (p.Lys118Thr) c.*501A>C (n.*501A>C) n.920A>C n.722A>C | ClinVar dbSNP |
| 13 | g.32330959A>G | CA387759992 | BRCA2 | c.722A>G (p.Lys241Arg) c.353A>G (p.Lys118Arg) c.*501A>G (n.*501A>G) n.920A>G n.722A>G | ClinVar dbSNP |
| 13 | g.32330959A>T | CA387759994 | BRCA2 | c.722A>T (p.Lys241Met) c.353A>T (p.Lys118Met) c.*501A>T (n.*501A>T) n.920A>T n.722A>T | |
| 13 | g.32330959_32330960delinsAG | CA2082759151 | BRCA2 | c.722_723delinsAG (p.Lys241=) c.353_354delinsAG (p.Lys118=) c.*501_*502delinsAG (n.*501_*502delinsAG) n.920_921delinsAG n.722_723delinsAG | |
| 13 | g.32330960del | CA10589043 | BRCA2 | c.723del (p.Asn243MetfsTer8) c.354del (p.Asn120MetfsTer8) c.*502del (n.*502del) n.921del n.723del | ClinVar dbSNP |
| 13 | g.32330960G>A | CA483274424 | BRCA2 | c.723G>A (p.Lys241=) c.354G>A (p.Lys118=) c.*502G>A (n.*502G>A) n.921G>A n.723G>A | ClinVar dbSNP |
| 13 | g.32330960G>C | CA387759995 | BRCA2 | c.723G>C (p.Lys241Asn) c.354G>C (p.Lys118Asn) c.*502G>C (n.*502G>C) n.921G>C n.723G>C |