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.32355209_32355228delinsAACAGTTTAAC | CA2580087437 | BRCA2 | c.7356_7375delinsAACAGTTTAAC (p.Asn2452LysfsTer4) c.6987_7006delinsAACAGTTTAAC (p.Asn2329LysfsTer4) n.7356_7375delinsAACAGTTTAAC c.7260_7279delinsAACAGTTTAAC (p.Asn2420LysfsTer4) | ClinVar |
| 13 | g.32355212_32355213delinsGA | CA2082811178 | BRCA2 | c.7359_7360delinsGA (p.Glu2453=) c.6990_6991delinsGA (p.Glu2330=) n.7359_7360delinsGA c.7263_7264delinsGA (p.Glu2421=) | |
| 13 | g.32355213del | CA025043 | BRCA2 | c.7360del (p.Ile2454PhefsTer13) c.6991del (p.Ile2331PhefsTer13) n.7360del c.7360del (p.Ile2454PhefsTer15) c.7264del (p.Ile2422PhefsTer13) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355213A= | CA2082811203 | BRCA2 | c.7360A= (p.Ile2454=) c.6991A= (p.Ile2331=) n.7360A= c.7264A= (p.Ile2422=) | |
| 13 | g.32355213A>C | CA387741442 | BRCA2 | c.7360A>C (p.Ile2454Leu) c.6991A>C (p.Ile2331Leu) n.7360A>C c.7264A>C (p.Ile2422Leu) | dbSNP |
| 13 | g.32355213A>G | CA387741441 | BRCA2 | c.7360A>G (p.Ile2454Val) c.6991A>G (p.Ile2331Val) n.7360A>G c.7264A>G (p.Ile2422Val) | |
| 13 | g.32355213A>T | CA10579734 | BRCA2 | c.7360A>T (p.Ile2454Phe) c.6991A>T (p.Ile2331Phe) n.7360A>T c.7264A>T (p.Ile2422Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355214T>A | CA387741445 | BRCA2 | c.7361T>A (p.Ile2454Asn) c.6992T>A (p.Ile2331Asn) n.7361T>A c.7265T>A (p.Ile2422Asn) | dbSNP |
| 13 | g.32355214T>C | CA387741447 | BRCA2 | c.7361T>C (p.Ile2454Thr) c.6992T>C (p.Ile2331Thr) n.7361T>C c.7265T>C (p.Ile2422Thr) | ClinVar dbSNP |
| 13 | g.32355214T>G | CA6941085 | BRCA2 | c.7361T>G (p.Ile2454Ser) c.6992T>G (p.Ile2331Ser) n.7361T>G c.7265T>G (p.Ile2422Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355214T= | CA2082811219 | BRCA2 | c.7361T= (p.Ile2454=) c.6992T= (p.Ile2331=) n.7361T= c.7265T= (p.Ile2422=) | |
| 13 | g.32355215T>A | CA483439489 | BRCA2 | c.7362T>A (p.Ile2454=) c.6993T>A (p.Ile2331=) n.7362T>A c.7266T>A (p.Ile2422=) | ClinVar |
| 13 | g.32355215T>C | CA483439490 | BRCA2 | c.7362T>C (p.Ile2454=) c.6993T>C (p.Ile2331=) n.7362T>C c.7266T>C (p.Ile2422=) | |
| 13 | g.32355215T>G | CA387741452 | BRCA2 | c.7362T>G (p.Ile2454Met) c.6993T>G (p.Ile2331Met) n.7362T>G c.7266T>G (p.Ile2422Met) | ClinVar dbSNP |
| 13 | g.32355215T= | CA2082811233 | BRCA2 | c.7362T= (p.Ile2454=) c.6993T= (p.Ile2331=) n.7362T= c.7266T= (p.Ile2422=) | |
| 13 | g.32355215_32355216delinsTC | CA2082811231 | BRCA2 | c.7362_7363delinsTC (p.Ile2454=) c.6993_6994delinsTC (p.Ile2331=) n.7362_7363delinsTC c.7266_7267delinsTC (p.Ile2422=) | |
| 13 | g.32355215_32355216insTAGA | CA609453877 | BRCA2 | c.7362_7363insTAGA (p.His2455Ter) c.6993_6994insTAGA (p.His2332Ter) n.7362_7363insTAGA c.7266_7267insTAGA (p.His2423Ter) | gnomAD v2 |
| 13 | g.32355215_32355216insTAGACAGAAATTCTTGA | CA2528863531 | BRCA2 | c.7362_7363insTAGACAGAAATTCTTGA (p.His2455Ter) c.6993_6994insTAGACAGAAATTCTTGA (p.His2332Ter) n.7362_7363insTAGACAGAAATTCTTGA c.7266_7267insTAGACAGAAATTCTTGA (p.His2423Ter) | |
| 13 | g.32355216del | CA10589424 | BRCA2 | c.7363del (p.His2455IlefsTer12) c.6994del (p.His2332IlefsTer12) n.7363del c.7363del (p.His2455IlefsTer14) c.7267del (p.His2423IlefsTer12) | ClinVar dbSNP |
| 13 | g.32355216C>A | CA387741458 | BRCA2 | c.7363C>A (p.His2455Asn) c.6994C>A (p.His2332Asn) n.7363C>A c.7267C>A (p.His2423Asn) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355216C>G | CA387741493 | BRCA2 | c.7363C>G (p.His2455Asp) c.6994C>G (p.His2332Asp) n.7363C>G c.7267C>G (p.His2423Asp) | |
| 13 | g.32355216C>T | CA387741487 | BRCA2 | c.7363C>T (p.His2455Tyr) c.6994C>T (p.His2332Tyr) n.7363C>T c.7267C>T (p.His2423Tyr) | |
| 13 | g.32355216dup | CA2580087438 | BRCA2 | c.7363dup (p.His2455ProfsTer4) c.6994dup (p.His2332ProfsTer4) n.7363dup c.7267dup (p.His2423ProfsTer4) | ClinVar |
| 13 | g.32355216_32355217del | CA609453878 | BRCA2 | c.7363_7364del (p.His2455SerfsTer3) c.6994_6995del (p.His2332SerfsTer3) n.7363_7364del c.7267_7268del (p.His2423SerfsTer3) | gnomAD v2 |
| 13 | g.32355217A= | CA2082811247 | BRCA2 | c.7364A= (p.His2455=) c.6995A= (p.His2332=) n.7364A= c.7268A= (p.His2423=) | |
| 13 | g.32355217A>C | CA387741501 | BRCA2 | c.7364A>C (p.His2455Pro) c.6995A>C (p.His2332Pro) n.7364A>C c.7268A>C (p.His2423Pro) | |
| 13 | g.32355217A>G | CA387741505 | BRCA2 | c.7364A>G (p.His2455Arg) c.6995A>G (p.His2332Arg) n.7364A>G c.7268A>G (p.His2423Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355217A>T | CA387741509 | BRCA2 | c.7364A>T (p.His2455Leu) c.6995A>T (p.His2332Leu) n.7364A>T c.7268A>T (p.His2423Leu) | |
| 13 | g.32355217_32355218insGAAATTC | CA609453879 | BRCA2 | c.7364_7365insGAAATTC (p.His2455GlnfsTer6) c.6995_6996insGAAATTC (p.His2332GlnfsTer6) n.7364_7365insGAAATTC c.7268_7269insGAAATTC (p.His2423GlnfsTer6) | dbSNP gnomAD v2 |
| 13 | g.32355218T>A | CA387741522 | BRCA2 | c.7365T>A (p.His2455Gln) c.6996T>A (p.His2332Gln) n.7365T>A c.7269T>A (p.His2423Gln) | ClinVar dbSNP |
| 13 | g.32355218T>C | CA483439491 | BRCA2 | c.7365T>C (p.His2455=) c.6996T>C (p.His2332=) n.7365T>C c.7269T>C (p.His2423=) | |
| 13 | g.32355218T>G | CA387741537 | BRCA2 | c.7365T>G (p.His2455Gln) c.6996T>G (p.His2332Gln) n.7365T>G c.7269T>G (p.His2423Gln) | |
| 13 | g.32355218T= | CA2082811252 | BRCA2 | c.7365T= (p.His2455=) c.6996T= (p.His2332=) n.7365T= c.7269T= (p.His2423=) | |
| 13 | g.32355218_32355219insAGA | CA609453880 | BRCA2 | c.7365_7366insAGA (p.His2455_Gln2456insArg) c.6996_6997insAGA (p.His2332_Gln2333insArg) n.7365_7366insAGA c.7269_7270insAGA (p.His2423_Gln2424insArg) | dbSNP gnomAD v2 |
| 13 | g.32355219C>A | CA387741542 | BRCA2 | c.7366C>A (p.Gln2456Lys) c.6997C>A (p.Gln2333Lys) n.7366C>A c.7270C>A (p.Gln2424Lys) | dbSNP gnomAD v4 |
| 13 | g.32355219C= | CA2082811259 | BRCA2 | c.7366C= (p.Gln2456=) c.6997C= (p.Gln2333=) n.7366C= c.7270C= (p.Gln2424=) | |
| 13 | g.32355219C>G | CA025044 | BRCA2 | c.7366C>G (p.Gln2456Glu) c.6997C>G (p.Gln2333Glu) n.7366C>G c.7270C>G (p.Gln2424Glu) | ClinVar dbSNP |
| 13 | g.32355219C>T | CA10579735 | BRCA2 | c.7366C>T (p.Gln2456Ter) c.6997C>T (p.Gln2333Ter) n.7366C>T c.7270C>T (p.Gln2424Ter) | ClinVar dbSNP |
| 13 | g.32355220A= | CA2082811286 | BRCA2 | c.7367A= (p.Gln2456=) c.6998A= (p.Gln2333=) n.7367A= c.7271A= (p.Gln2424=) | |
| 13 | g.32355220A>C | CA387741548 | BRCA2 | c.7367A>C (p.Gln2456Pro) c.6998A>C (p.Gln2333Pro) n.7367A>C c.7271A>C (p.Gln2424Pro) | ClinVar gnomAD v4 |
| 13 | g.32355220A>G | CA387741549 | BRCA2 | c.7367A>G (p.Gln2456Arg) c.6998A>G (p.Gln2333Arg) n.7367A>G c.7271A>G (p.Gln2424Arg) | ClinVar dbSNP |
| 13 | g.32355220A>T | CA387741550 | BRCA2 | c.7367A>T (p.Gln2456Leu) c.6998A>T (p.Gln2333Leu) n.7367A>T c.7271A>T (p.Gln2424Leu) | gnomAD v4 |
| 13 | g.32355220_32355224delinsAGTTT | CA2082811292 | BRCA2 | c.7367_7371delinsAGTTT (p.Gln2456=) c.6998_7002delinsAGTTT (p.Gln2333=) n.7367_7371delinsAGTTT c.7271_7275delinsAGTTT (p.Gln2424=) | |
| 13 | g.32355221G>A | CA483439492 | BRCA2 | c.7368G>A (p.Gln2456=) c.6999G>A (p.Gln2333=) n.7368G>A c.7272G>A (p.Gln2424=) | dbSNP |
| 13 | g.32355221G>C | CA387741555 | BRCA2 | c.7368G>C (p.Gln2456His) c.6999G>C (p.Gln2333His) n.7368G>C c.7272G>C (p.Gln2424His) | gnomAD v4 |
| 13 | g.32355221G= | CA2082811302 | BRCA2 | c.7368G= (p.Gln2456=) c.6999G= (p.Gln2333=) n.7368G= c.7272G= (p.Gln2424=) | |
| 13 | g.32355221G>T | CA387741552 | BRCA2 | c.7368G>T (p.Gln2456His) c.6999G>T (p.Gln2333His) n.7368G>T c.7272G>T (p.Gln2424His) | ClinVar gnomAD v4 |
| 13 | g.32355221_32355224del | CA10589425 | BRCA2 | c.7368_7371del (p.Phe2457ThrfsTer9) c.6999_7002del (p.Phe2334ThrfsTer9) n.7368_7371del c.7368_7371del (p.Phe2457ThrfsTer11) c.7272_7275del (p.Phe2425ThrfsTer9) | ClinVar dbSNP |
| 13 | g.32355221_32355222insAAA | CA609453881 | BRCA2 | c.7368_7369insAAA (p.Gln2456_Phe2457insLys) c.6999_7000insAAA (p.Gln2333_Phe2334insLys) n.7368_7369insAAA c.7272_7273insAAA (p.Gln2424_Phe2425insLys) | dbSNP gnomAD v2 |