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.32357847_32357906dup | CA2580614662 | BRCA2 | c.7723_7782dup (p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.7354_7413dup (p.Lys2471_Ala2472insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.190_249dup (p.Lys83_Ala84insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.288_347dup n.7723_7782dup c.7627_7686dup (p.Lys2562_Ala2563insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) | ClinVar |
| 13 | g.32357895A= | CA2082818905 | BRCA2 | c.7771A= (p.Asn2591=) c.7402A= (p.Asn2468=) c.238A= (p.Asn80=) c.336A= n.7771A= c.7675A= (p.Asn2559=) | |
| 13 | g.32357895A>C | CA6941138 | BRCA2 | c.7771A>C (p.Asn2591His) c.7402A>C (p.Asn2468His) c.238A>C (p.Asn80His) c.336A>C n.7771A>C c.7675A>C (p.Asn2559His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32357895A>G | CA16619770 | BRCA2 | c.7771A>G (p.Asn2591Asp) c.7402A>G (p.Asn2468Asp) c.238A>G (p.Asn80Asp) c.336A>G n.7771A>G c.7675A>G (p.Asn2559Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357895A>T | CA387745907 | BRCA2 | c.7771A>T (p.Asn2591Tyr) c.7402A>T (p.Asn2468Tyr) c.238A>T (p.Asn80Tyr) c.336A>T n.7771A>T c.7675A>T (p.Asn2559Tyr) | |
| 13 | g.32357896A= | CA2082818912 | BRCA2 | c.7772A= (p.Asn2591=) c.7403A= (p.Asn2468=) c.239A= (p.Asn80=) c.337A= n.7772A= c.7676A= (p.Asn2559=) | |
| 13 | g.32357896A>C | CA387745922 | BRCA2 | c.7772A>C (p.Asn2591Thr) c.7403A>C (p.Asn2468Thr) c.239A>C (p.Asn80Thr) c.337A>C n.7772A>C c.7676A>C (p.Asn2559Thr) | |
| 13 | g.32357896A>G | CA025270 | BRCA2 | c.7772A>G (p.Asn2591Ser) c.7403A>G (p.Asn2468Ser) c.239A>G (p.Asn80Ser) c.337A>G n.7772A>G c.7676A>G (p.Asn2559Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357896A>T | CA387745916 | BRCA2 | c.7772A>T (p.Asn2591Ile) c.7403A>T (p.Asn2468Ile) c.239A>T (p.Asn80Ile) c.337A>T n.7772A>T c.7676A>T (p.Asn2559Ile) | dbSNP |
| 13 | g.32357897T>A | CA387745927 | BRCA2 | c.7773T>A (p.Asn2591Lys) c.7404T>A (p.Asn2468Lys) c.240T>A (p.Asn80Lys) c.338T>A n.7773T>A c.7677T>A (p.Asn2559Lys) | dbSNP |
| 13 | g.32357897T>C | CA483439276 | BRCA2 | c.7773T>C (p.Asn2591=) c.7404T>C (p.Asn2468=) c.240T>C (p.Asn80=) c.338T>C n.7773T>C c.7677T>C (p.Asn2559=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357897T>G | CA387745930 | BRCA2 | c.7773T>G (p.Asn2591Lys) c.7404T>G (p.Asn2468Lys) c.240T>G (p.Asn80Lys) c.338T>G n.7773T>G c.7677T>G (p.Asn2559Lys) | |
| 13 | g.32357897T= | CA2082818921 | BRCA2 | c.7773T= (p.Asn2591=) c.7404T= (p.Asn2468=) c.240T= (p.Asn80=) c.338T= n.7773T= c.7677T= (p.Asn2559=) | |
| 13 | g.32357898G>A | CA387745936 | BRCA2 | c.7774G>A (p.Asp2592Asn) c.7405G>A (p.Asp2469Asn) c.241G>A (p.Asp81Asn) c.339G>A n.7774G>A c.7678G>A (p.Asp2560Asn) | ClinVar dbSNP |
| 13 | g.32357898G>C | CA387745939 | BRCA2 | c.7774G>C (p.Asp2592His) c.7405G>C (p.Asp2469His) c.241G>C (p.Asp81His) c.339G>C n.7774G>C c.7678G>C (p.Asp2560His) | dbSNP |
| 13 | g.32357898G>T | CA387745942 | BRCA2 | c.7774G>T (p.Asp2592Tyr) c.7405G>T (p.Asp2469Tyr) c.241G>T (p.Asp81Tyr) c.339G>T n.7774G>T c.7678G>T (p.Asp2560Tyr) | dbSNP |
| 13 | g.32357899A= | CA2082818931 | BRCA2 | c.7775A= (p.Asp2592=) c.7406A= (p.Asp2469=) c.242A= (p.Asp81=) c.340A= n.7775A= c.7679A= (p.Asp2560=) | |
| 13 | g.32357899A>C | CA387745944 | BRCA2 | c.7775A>C (p.Asp2592Ala) c.7406A>C (p.Asp2469Ala) c.242A>C (p.Asp81Ala) c.340A>C n.7775A>C c.7679A>C (p.Asp2560Ala) | |
| 13 | g.32357899A>G | CA387745947 | BRCA2 | c.7775A>G (p.Asp2592Gly) c.7406A>G (p.Asp2469Gly) c.242A>G (p.Asp81Gly) c.340A>G n.7775A>G c.7679A>G (p.Asp2560Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357899A>T | CA387745950 | BRCA2 | c.7775A>T (p.Asp2592Val) c.7406A>T (p.Asp2469Val) c.242A>T (p.Asp81Val) c.340A>T n.7775A>T c.7679A>T (p.Asp2560Val) | |
| 13 | g.32357900T>A | CA387745954 | BRCA2 | c.7776T>A (p.Asp2592Glu) c.7407T>A (p.Asp2469Glu) c.243T>A (p.Asp81Glu) c.341T>A n.7776T>A c.7680T>A (p.Asp2560Glu) | dbSNP |
| 13 | g.32357900T>C | CA483439282 | BRCA2 | c.7776T>C (p.Asp2592=) c.7407T>C (p.Asp2469=) c.243T>C (p.Asp81=) c.341T>C n.7776T>C c.7680T>C (p.Asp2560=) | ClinVar dbSNP |
| 13 | g.32357900T>G | CA387745958 | BRCA2 | c.7776T>G (p.Asp2592Glu) c.7407T>G (p.Asp2469Glu) c.243T>G (p.Asp81Glu) c.341T>G n.7776T>G c.7680T>G (p.Asp2560Glu) | |
| 13 | g.32357901G>A | CA387745960 | BRCA2 | c.7777G>A (p.Gly2593Arg) c.7408G>A (p.Gly2470Arg) c.244G>A (p.Gly82Arg) c.342G>A n.7777G>A c.7681G>A (p.Gly2561Arg) | ClinVar gnomAD v4 |
| 13 | g.32357901G>C | CA387745961 | BRCA2 | c.7777G>C (p.Gly2593Arg) c.7408G>C (p.Gly2470Arg) c.244G>C (p.Gly82Arg) c.342G>C n.7777G>C c.7681G>C (p.Gly2561Arg) | |
| 13 | g.32357901G= | CA2082818940 | BRCA2 | c.7777G= (p.Gly2593=) c.7408G= (p.Gly2470=) c.244G= (p.Gly82=) c.342G= n.7777G= c.7681G= (p.Gly2561=) | |
| 13 | g.32357901G>T | CA025271 | BRCA2 | c.7777G>T (p.Gly2593Ter) c.7408G>T (p.Gly2470Ter) c.244G>T (p.Gly82Ter) c.342G>T n.7777G>T c.7681G>T (p.Gly2561Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32357902G>A | CA387745964 | BRCA2 | c.7778G>A (p.Gly2593Glu) c.7409G>A (p.Gly2470Glu) c.245G>A (p.Gly82Glu) c.343G>A n.7778G>A c.7682G>A (p.Gly2561Glu) | ClinVar dbSNP |
| 13 | g.32357902G>C | CA387745966 | BRCA2 | c.7778G>C (p.Gly2593Ala) c.7409G>C (p.Gly2470Ala) c.245G>C (p.Gly82Ala) c.343G>C n.7778G>C c.7682G>C (p.Gly2561Ala) | dbSNP |
| 13 | g.32357902G= | CA2082818945 | BRCA2 | c.7778G= (p.Gly2593=) c.7409G= (p.Gly2470=) c.245G= (p.Gly82=) c.343G= n.7778G= c.7682G= (p.Gly2561=) | |
| 13 | g.32357902G>T | CA387745963 | BRCA2 | c.7778G>T (p.Gly2593Val) c.7409G>T (p.Gly2470Val) c.245G>T (p.Gly82Val) c.343G>T n.7778G>T c.7682G>T (p.Gly2561Val) | |
| 13 | g.32357903A= | CA2082818953 | BRCA2 | c.7779A= (p.Gly2593=) c.7410A= (p.Gly2470=) c.246A= (p.Gly82=) c.344A= n.7779A= c.7683A= (p.Gly2561=) | |
| 13 | g.32357903A>C | CA483439283 | BRCA2 | c.7779A>C (p.Gly2593=) c.7410A>C (p.Gly2470=) c.246A>C (p.Gly82=) c.344A>C n.7779A>C c.7683A>C (p.Gly2561=) | |
| 13 | g.32357903A>G | CA483439284 | BRCA2 | c.7779A>G (p.Gly2593=) c.7410A>G (p.Gly2470=) c.246A>G (p.Gly82=) c.344A>G n.7779A>G c.7683A>G (p.Gly2561=) | dbSNP |
| 13 | g.32357903A>T | CA483439285 | BRCA2 | c.7779A>T (p.Gly2593=) c.7410A>T (p.Gly2470=) c.246A>T (p.Gly82=) c.344A>T n.7779A>T c.7683A>T (p.Gly2561=) | ClinVar dbSNP |
| 13 | g.32357905dup | CA10589450 | BRCA2 | c.7781dup (p.Ala2595GlyfsTer8) c.7412dup (p.Ala2472GlyfsTer8) c.248dup (p.Ala84GlyfsTer8) c.346dup n.7781dup c.7685dup (p.Ala2563GlyfsTer8) | ClinVar dbSNP |
| 13 | g.32357905del | CA2573149412 | BRCA2 | c.7781del (p.Lys2594ArgfsTer?) c.7412del (p.Lys2471ArgfsTer?) c.248del (p.Lys83ArgfsTer?) c.7781del (p.Lys2594ArgfsTer15) c.346del n.7781del c.7685del (p.Lys2562ArgfsTer?) | ClinVar dbSNP |
| 13 | g.32357904A>C | CA387745970 | BRCA2 | c.7780A>C (p.Lys2594Gln) c.7411A>C (p.Lys2471Gln) c.247A>C (p.Lys83Gln) c.345A>C n.7780A>C c.7684A>C (p.Lys2562Gln) | |
| 13 | g.32357904A>G | CA387745967 | BRCA2 | c.7780A>G (p.Lys2594Glu) c.7411A>G (p.Lys2471Glu) c.247A>G (p.Lys83Glu) c.345A>G n.7780A>G c.7684A>G (p.Lys2562Glu) | |
| 13 | g.32357904A>T | CA387745972 | BRCA2 | c.7780A>T (p.Lys2594Ter) c.7411A>T (p.Lys2471Ter) c.247A>T (p.Lys83Ter) c.345A>T n.7780A>T c.7684A>T (p.Lys2562Ter) | dbSNP |
| 13 | g.32357905A= | CA2082818957 | BRCA2 | c.7781A= (p.Lys2594=) c.7412A= (p.Lys2471=) c.248A= (p.Lys83=) c.346A= n.7781A= c.7685A= (p.Lys2562=) | |
| 13 | g.32357905A>C | CA387745974 | BRCA2 | c.7781A>C (p.Lys2594Thr) c.7412A>C (p.Lys2471Thr) c.248A>C (p.Lys83Thr) c.346A>C n.7781A>C c.7685A>C (p.Lys2562Thr) | |
| 13 | g.32357905A>G | CA10579754 | BRCA2 | c.7781A>G (p.Lys2594Arg) c.7412A>G (p.Lys2471Arg) c.248A>G (p.Lys83Arg) c.346A>G n.7781A>G c.7685A>G (p.Lys2562Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32357905A>T | CA387745975 | BRCA2 | c.7781A>T (p.Lys2594Met) c.7412A>T (p.Lys2471Met) c.248A>T (p.Lys83Met) c.346A>T n.7781A>T c.7685A>T (p.Lys2562Met) | |
| 13 | g.32357906G>A | CA483439288 | BRCA2 | c.7782G>A (p.Lys2594=) c.7413G>A (p.Lys2471=) c.249G>A (p.Lys83=) c.347G>A n.7782G>A c.7686G>A (p.Lys2562=) | dbSNP |
| 13 | g.32357906G>C | CA387745983 | BRCA2 | c.7782G>C (p.Lys2594Asn) c.7413G>C (p.Lys2471Asn) c.249G>C (p.Lys83Asn) c.347G>C n.7782G>C c.7686G>C (p.Lys2562Asn) | dbSNP |
| 13 | g.32357906G>T | CA387745986 | BRCA2 | c.7782G>T (p.Lys2594Asn) c.7413G>T (p.Lys2471Asn) c.249G>T (p.Lys83Asn) c.347G>T n.7782G>T c.7686G>T (p.Lys2562Asn) | gnomAD v4 |
| 13 | g.32357907del | CA2695202250 | BRCA2 | c.7783del (p.Ala2595LeufsTer?) c.7414del (p.Ala2472LeufsTer?) c.250del (p.Ala84LeufsTer?) c.7783del (p.Ala2595LeufsTer14) c.348del n.7783del c.7687del (p.Ala2563LeufsTer?) | |
| 13 | g.32357907G>A | CA10579755 | BRCA2 | c.7783G>A (p.Ala2595Thr) c.7414G>A (p.Ala2472Thr) c.250G>A (p.Ala84Thr) c.348G>A n.7783G>A c.7687G>A (p.Ala2563Thr) | ClinVar dbSNP |
| 13 | g.32357907G>C | CA387745989 | BRCA2 | c.7783G>C (p.Ala2595Pro) c.7414G>C (p.Ala2472Pro) c.250G>C (p.Ala84Pro) c.348G>C n.7783G>C c.7687G>C (p.Ala2563Pro) | gnomAD v4 |