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.32357797_32357798dup | CA6941129 | BRCA2 | c.7673_7674dup (p.Phe2560LeufsTer?) c.7304_7305dup (p.Phe2437LeufsTer?) c.140_141dup (p.Phe49LeufsTer?) c.238_239dup n.7673_7674dup c.7577_7578dup (p.Phe2528LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32357797_32357798del | CA025217 | BRCA2 | c.7673_7674del (p.Glu2558ValfsTer7) c.7304_7305del (p.Glu2435ValfsTer7) c.140_141del (p.Glu47ValfsTer7) c.238_239del n.7673_7674del c.7577_7578del (p.Glu2526ValfsTer7) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357796_32357797delinsGA | CA2082818056 | BRCA2 | c.7672_7673delinsGA (p.Glu2558=) c.7303_7304delinsGA (p.Glu2435=) c.139_140delinsGA (p.Glu47=) c.237_238delinsGA n.7672_7673delinsGA c.7576_7577delinsGA (p.Glu2526=) | |
| 13 | g.32357797del | CA10583134 | BRCA2 | c.7673del (p.Glu2558GlyfsTer?) c.7304del (p.Glu2435GlyfsTer?) c.140del (p.Glu47GlyfsTer?) c.238del n.7673del c.7577del (p.Glu2526GlyfsTer?) | ClinVar dbSNP |
| 13 | g.32357797A= | CA2082818074 | BRCA2 | c.7673A= (p.Glu2558=) c.7304A= (p.Glu2435=) c.140A= (p.Glu47=) c.238A= n.7673A= c.7577A= (p.Glu2526=) | |
| 13 | g.32357797A>C | CA387745072 | BRCA2 | c.7673A>C (p.Glu2558Ala) c.7304A>C (p.Glu2435Ala) c.140A>C (p.Glu47Ala) c.238A>C n.7673A>C c.7577A>C (p.Glu2526Ala) | dbSNP |
| 13 | g.32357797A>G | CA387745064 | BRCA2 | c.7673A>G (p.Glu2558Gly) c.7304A>G (p.Glu2435Gly) c.140A>G (p.Glu47Gly) c.238A>G n.7673A>G c.7577A>G (p.Glu2526Gly) | |
| 13 | g.32357797A>T | CA025218 | BRCA2 | c.7673A>T (p.Glu2558Val) c.7304A>T (p.Glu2435Val) c.140A>T (p.Glu47Val) c.238A>T n.7673A>T c.7577A>T (p.Glu2526Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357798G>A | CA483439168 | BRCA2 | c.7674G>A (p.Glu2558=) c.7305G>A (p.Glu2435=) c.141G>A (p.Glu47=) c.239G>A n.7674G>A c.7578G>A (p.Glu2526=) | dbSNP |
| 13 | g.32357798G>C | CA025219 | BRCA2 | c.7674G>C (p.Glu2558Asp) c.7305G>C (p.Glu2435Asp) c.141G>C (p.Glu47Asp) c.239G>C n.7674G>C c.7578G>C (p.Glu2526Asp) | ClinVar dbSNP |
| 13 | g.32357798G= | CA2082818094 | BRCA2 | c.7674G= (p.Glu2558=) c.7305G= (p.Glu2435=) c.141G= (p.Glu47=) c.239G= n.7674G= c.7578G= (p.Glu2526=) | |
| 13 | g.32357798G>T | CA387745077 | BRCA2 | c.7674G>T (p.Glu2558Asp) c.7305G>T (p.Glu2435Asp) c.141G>T (p.Glu47Asp) c.239G>T n.7674G>T c.7578G>T (p.Glu2526Asp) | |
| 13 | g.32357798_32357800delinsGTC | CA2082818099 | BRCA2 | c.7674_7676delinsGTC (p.Glu2558=) c.7305_7307delinsGTC (p.Glu2435=) c.141_143delinsGTC (p.Glu47=) c.239_241delinsGTC n.7674_7676delinsGTC c.7578_7580delinsGTC (p.Glu2526=) | |
| 13 | g.32357798_32357803delinsGTCTTT | CA2082818097 | BRCA2 | c.7674_7679delinsGTCTTT (p.Glu2558=) c.7305_7310delinsGTCTTT (p.Glu2435=) c.141_146delinsGTCTTT (p.Glu47=) c.239_244delinsGTCTTT n.7674_7679delinsGTCTTT c.7578_7583delinsGTCTTT (p.Glu2526=) | |
| 13 | g.32357798_32357799insAAAC | CA658823753 | BRCA2 | c.7674_7675insAAAC (p.Ser2559LysfsTer8) c.7305_7306insAAAC (p.Ser2436LysfsTer8) c.141_142insAAAC (p.Ser48LysfsTer8) c.239_240insAAAC n.7674_7675insAAAC c.7578_7579insAAAC (p.Ser2527LysfsTer8) | ClinVar dbSNP |
| 13 | g.32357799T>A | CA387745084 | BRCA2 | c.7675T>A (p.Ser2559Thr) c.7306T>A (p.Ser2436Thr) c.142T>A (p.Ser48Thr) c.240T>A n.7675T>A c.7579T>A (p.Ser2527Thr) | ClinVar dbSNP |
| 13 | g.32357799T>C | CA387745087 | BRCA2 | c.7675T>C (p.Ser2559Pro) c.7306T>C (p.Ser2436Pro) c.142T>C (p.Ser48Pro) c.240T>C n.7675T>C c.7579T>C (p.Ser2527Pro) | COSMIC COSMIC |
| 13 | g.32357799T>G | CA387745090 | BRCA2 | c.7675T>G (p.Ser2559Ala) c.7306T>G (p.Ser2436Ala) c.142T>G (p.Ser48Ala) c.240T>G n.7675T>G c.7579T>G (p.Ser2527Ala) | dbSNP |
| 13 | g.32357799T= | CA2082818116 | BRCA2 | c.7675T= (p.Ser2559=) c.7306T= (p.Ser2436=) c.142T= (p.Ser48=) c.240T= n.7675T= c.7579T= (p.Ser2527=) | |
| 13 | g.32357800_32357801del | CA915946875 | BRCA2 | c.7676_7677del (p.Ser2559PhefsTer6) c.7307_7308del (p.Ser2436PhefsTer6) c.143_144del (p.Ser48PhefsTer6) c.241_242del n.7676_7677del c.7580_7581del (p.Ser2527PhefsTer6) | ClinVar dbSNP |
| 13 | g.32357801_32357805del | CA2082818117 | BRCA2 | c.7677_7681del (p.Phe2560ValfsTer4) c.7308_7312del (p.Phe2437ValfsTer4) c.144_148del (p.Phe49ValfsTer4) c.242_246del n.7677_7681del c.7581_7585del (p.Phe2528ValfsTer4) | dbSNP |
| 13 | g.32357799_32357800insAAAC | CA025220 | BRCA2 | c.7675_7676insAAAC (p.Ser2559Ter) c.7306_7307insAAAC (p.Ser2436Ter) c.142_143insAAAC (p.Ser48Ter) c.240_241insAAAC n.7675_7676insAAAC c.7579_7580insAAAC (p.Ser2527Ter) | ClinVar dbSNP |
| 13 | g.32357800C>A | CA387745094 | BRCA2 | c.7676C>A (p.Ser2559Tyr) c.7307C>A (p.Ser2436Tyr) c.143C>A (p.Ser48Tyr) c.241C>A n.7676C>A c.7580C>A (p.Ser2527Tyr) | COSMIC COSMIC |
| 13 | g.32357800C= | CA2082818141 | BRCA2 | c.7676C= (p.Ser2559=) c.7307C= (p.Ser2436=) c.143C= (p.Ser48=) c.241C= n.7676C= c.7580C= (p.Ser2527=) | |
| 13 | g.32357800C>G | CA16614210 | BRCA2 | c.7676C>G (p.Ser2559Cys) c.7307C>G (p.Ser2436Cys) c.143C>G (p.Ser48Cys) c.241C>G n.7676C>G c.7580C>G (p.Ser2527Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32357800C>T | CA387745097 | BRCA2 | c.7676C>T (p.Ser2559Phe) c.7307C>T (p.Ser2436Phe) c.143C>T (p.Ser48Phe) c.241C>T n.7676C>T c.7580C>T (p.Ser2527Phe) | ClinVar dbSNP |
| 13 | g.32357800_32357802delinsCTT | CA2082818134 | BRCA2 | c.7676_7678delinsCTT (p.Ser2559=) c.7307_7309delinsCTT (p.Ser2436=) c.143_145delinsCTT (p.Ser48=) c.241_243delinsCTT n.7676_7678delinsCTT c.7580_7582delinsCTT (p.Ser2527=) | |
| 13 | g.32357801T>A | CA483439170 | BRCA2 | c.7677T>A (p.Ser2559=) c.7308T>A (p.Ser2436=) c.144T>A (p.Ser48=) c.242T>A n.7677T>A c.7581T>A (p.Ser2527=) | dbSNP |
| 13 | g.32357801T>C | CA483439171 | BRCA2 | c.7677T>C (p.Ser2559=) c.7308T>C (p.Ser2436=) c.144T>C (p.Ser48=) c.242T>C n.7677T>C c.7581T>C (p.Ser2527=) | |
| 13 | g.32357801T>G | CA483439172 | BRCA2 | c.7677T>G (p.Ser2559=) c.7308T>G (p.Ser2436=) c.144T>G (p.Ser48=) c.242T>G n.7677T>G c.7581T>G (p.Ser2527=) | |
| 13 | g.32357804dup | CA025225 | BRCA2 | c.7680dup (p.Gln2561SerfsTer5) c.7311dup (p.Gln2438SerfsTer5) c.147dup (p.Gln50SerfsTer5) c.245dup n.7680dup c.7584dup (p.Gln2529SerfsTer5) | ClinVar dbSNP |
| 13 | g.32357804del | CA025226 | BRCA2 | c.7680del (p.Gln2561SerfsTer?) c.7311del (p.Gln2438SerfsTer?) c.147del (p.Gln50SerfsTer?) c.245del n.7680del c.7584del (p.Gln2529SerfsTer?) | ClinVar dbSNP |
| 13 | g.32357803_32357804del | CA025223 | BRCA2 | c.7679_7680del (p.Phe2560SerfsTer5) c.7310_7311del (p.Phe2437SerfsTer5) c.146_147del (p.Phe49SerfsTer5) c.244_245del n.7679_7680del c.7583_7584del (p.Phe2528SerfsTer5) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357802T>A | CA387745109 | BRCA2 | c.7678T>A (p.Phe2560Ile) c.7309T>A (p.Phe2437Ile) c.145T>A (p.Phe49Ile) c.243T>A n.7678T>A c.7582T>A (p.Phe2528Ile) | |
| 13 | g.32357802T>C | CA387745107 | BRCA2 | c.7678T>C (p.Phe2560Leu) c.7309T>C (p.Phe2437Leu) c.145T>C (p.Phe49Leu) c.243T>C n.7678T>C c.7582T>C (p.Phe2528Leu) | ClinVar dbSNP |
| 13 | g.32357802T>G | CA387745105 | BRCA2 | c.7678T>G (p.Phe2560Val) c.7309T>G (p.Phe2437Val) c.145T>G (p.Phe49Val) c.243T>G n.7678T>G c.7582T>G (p.Phe2528Val) | |
| 13 | g.32357802T= | CA2082818166 | BRCA2 | c.7678T= (p.Phe2560=) c.7309T= (p.Phe2437=) c.145T= (p.Phe49=) c.243T= n.7678T= c.7582T= (p.Phe2528=) | |
| 13 | g.32357803T>A | CA387745118 | BRCA2 | c.7679T>A (p.Phe2560Tyr) c.7310T>A (p.Phe2437Tyr) c.146T>A (p.Phe49Tyr) c.244T>A n.7679T>A c.7583T>A (p.Phe2528Tyr) | dbSNP |
| 13 | g.32357803T>C | CA6941130 | BRCA2 | c.7679T>C (p.Phe2560Ser) c.7310T>C (p.Phe2437Ser) c.146T>C (p.Phe49Ser) c.244T>C n.7679T>C c.7583T>C (p.Phe2528Ser) | ClinVar dbSNP ExAC |
| 13 | g.32357803T>G | CA387745117 | BRCA2 | c.7679T>G (p.Phe2560Cys) c.7310T>G (p.Phe2437Cys) c.146T>G (p.Phe49Cys) c.244T>G n.7679T>G c.7583T>G (p.Phe2528Cys) | dbSNP |
| 13 | g.32357803T= | CA2082818174 | BRCA2 | c.7679T= (p.Phe2560=) c.7310T= (p.Phe2437=) c.146T= (p.Phe49=) c.244T= n.7679T= c.7583T= (p.Phe2528=) | |
| 13 | g.32357804T>A | CA387745119 | BRCA2 | c.7680T>A (p.Phe2560Leu) c.7311T>A (p.Phe2437Leu) c.147T>A (p.Phe49Leu) c.245T>A n.7680T>A c.7584T>A (p.Phe2528Leu) | |
| 13 | g.32357804T>C | CA483439176 | BRCA2 | c.7680T>C (p.Phe2560=) c.7311T>C (p.Phe2437=) c.147T>C (p.Phe49=) c.245T>C n.7680T>C c.7584T>C (p.Phe2528=) | ClinVar dbSNP |
| 13 | g.32357804T>G | CA387745120 | BRCA2 | c.7680T>G (p.Phe2560Leu) c.7311T>G (p.Phe2437Leu) c.147T>G (p.Phe49Leu) c.245T>G n.7680T>G c.7584T>G (p.Phe2528Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357804T= | CA2082818178 | BRCA2 | c.7680T= (p.Phe2560=) c.7311T= (p.Phe2437=) c.147T= (p.Phe49=) c.245T= n.7680T= c.7584T= (p.Phe2528=) | |
| 13 | g.32357805C>A | CA387745121 | BRCA2 | c.7681C>A (p.Gln2561Lys) c.7312C>A (p.Gln2438Lys) c.148C>A (p.Gln50Lys) c.246C>A n.7681C>A c.7585C>A (p.Gln2529Lys) | ClinVar |
| 13 | g.32357805C= | CA2082818186 | BRCA2 | c.7681C= (p.Gln2561=) c.7312C= (p.Gln2438=) c.148C= (p.Gln50=) c.246C= n.7681C= c.7585C= (p.Gln2529=) | |
| 13 | g.32357805C>G | CA387745124 | BRCA2 | c.7681C>G (p.Gln2561Glu) c.7312C>G (p.Gln2438Glu) c.148C>G (p.Gln50Glu) c.246C>G n.7681C>G c.7585C>G (p.Gln2529Glu) | dbSNP |
| 13 | g.32357805C>T | CA025228 | BRCA2 | c.7681C>T (p.Gln2561Ter) c.7312C>T (p.Gln2438Ter) c.148C>T (p.Gln50Ter) c.246C>T n.7681C>T c.7585C>T (p.Gln2529Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357805_32357806insT | CA025227 | BRCA2 | c.7681_7682insT (p.Gln2561LeufsTer5) c.7312_7313insT (p.Gln2438LeufsTer5) c.148_149insT (p.Gln50LeufsTer5) c.246_247insT n.7681_7682insT c.7585_7586insT (p.Gln2529LeufsTer5) | ClinVar dbSNP |