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.32357793G>A | CA10579747 | BRCA2 | c.7669G>A (p.Ala2557Thr) c.7300G>A (p.Ala2434Thr) c.136G>A (p.Ala46Thr) c.234G>A n.7669G>A c.7573G>A (p.Ala2525Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32357793G>C | CA387745041 | BRCA2 | c.7669G>C (p.Ala2557Pro) c.7300G>C (p.Ala2434Pro) c.136G>C (p.Ala46Pro) c.234G>C n.7669G>C c.7573G>C (p.Ala2525Pro) | dbSNP |
| 13 | g.32357793G= | CA2082818001 | BRCA2 | c.7669G= (p.Ala2557=) c.7300G= (p.Ala2434=) c.136G= (p.Ala46=) c.234G= n.7669G= c.7573G= (p.Ala2525=) | |
| 13 | g.32357793G>T | CA387745044 | BRCA2 | c.7669G>T (p.Ala2557Ser) c.7300G>T (p.Ala2434Ser) c.136G>T (p.Ala46Ser) c.234G>T n.7669G>T c.7573G>T (p.Ala2525Ser) | |
| 13 | g.32357793_32357794insTATCACACAATAAAAACAATTATAACAAA | CA2501501461 | BRCA2 | c.7669_7670insTATCACACAATAAAAACAATTATAACAAA (p.Ala2557ValfsTer?) c.7300_7301insTATCACACAATAAAAACAATTATAACAAA (p.Ala2434ValfsTer?) c.136_137insTATCACACAATAAAAACAATTATAACAAA (p.Ala46ValfsTer?) c.234_235insTATCACACAATAAAAACAATTATAACAAA n.7669_7670insTATCACACAATAAAAACAATTATAACAAA c.7573_7574insTATCACACAATAAAAACAATTATAACAAA (p.Ala2525ValfsTer?) | |
| 13 | g.32357794C>A | CA387745046 | BRCA2 | c.7670C>A (p.Ala2557Glu) c.7301C>A (p.Ala2434Glu) c.137C>A (p.Ala46Glu) c.235C>A n.7670C>A c.7574C>A (p.Ala2525Glu) | ClinVar |
| 13 | g.32357794C= | CA2082818022 | BRCA2 | c.7670C= (p.Ala2557=) c.7301C= (p.Ala2434=) c.137C= (p.Ala46=) c.235C= n.7670C= c.7574C= (p.Ala2525=) | |
| 13 | g.32357794C>G | CA387745047 | BRCA2 | c.7670C>G (p.Ala2557Gly) c.7301C>G (p.Ala2434Gly) c.137C>G (p.Ala46Gly) c.235C>G n.7670C>G c.7574C>G (p.Ala2525Gly) | dbSNP |
| 13 | g.32357794C>T | CA6941128 | BRCA2 | c.7670C>T (p.Ala2557Val) c.7301C>T (p.Ala2434Val) c.137C>T (p.Ala46Val) c.235C>T n.7670C>T c.7574C>T (p.Ala2525Val) | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 13 | g.32357794_32357795delinsCA | CA2082818011 | BRCA2 | c.7670_7671delinsCA (p.Ala2557=) c.7301_7302delinsCA (p.Ala2434=) c.137_138delinsCA (p.Ala46=) c.235_236delinsCA n.7670_7671delinsCA c.7574_7575delinsCA (p.Ala2525=) | |
| 13 | g.32357794_32357796delinsCAG | CA2082818010 | BRCA2 | c.7670_7672delinsCAG (p.Ala2557=) c.7301_7303delinsCAG (p.Ala2434=) c.137_139delinsCAG (p.Ala46=) c.235_237delinsCAG n.7670_7672delinsCAG c.7574_7576delinsCAG (p.Ala2525=) | |
| 13 | g.32357795del | CA025216 | BRCA2 | c.7671del (p.Glu2558SerfsTer?) c.7302del (p.Glu2435SerfsTer?) c.138del (p.Glu47SerfsTer?) c.236del n.7671del c.7575del (p.Glu2526SerfsTer?) | ClinVar dbSNP |
| 13 | g.32357795A= | CA2082818045 | BRCA2 | c.7671A= (p.Ala2557=) c.7302A= (p.Ala2434=) c.138A= (p.Ala46=) c.236A= n.7671A= c.7575A= (p.Ala2525=) | |
| 13 | g.32357795A>C | CA483439166 | BRCA2 | c.7671A>C (p.Ala2557=) c.7302A>C (p.Ala2434=) c.138A>C (p.Ala46=) c.236A>C n.7671A>C c.7575A>C (p.Ala2525=) | ClinVar |
| 13 | g.32357795A>G | CA16607482 | BRCA2 | c.7671A>G (p.Ala2557=) c.7302A>G (p.Ala2434=) c.138A>G (p.Ala46=) c.236A>G n.7671A>G c.7575A>G (p.Ala2525=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357795A>T | CA483439165 | BRCA2 | c.7671A>T (p.Ala2557=) c.7302A>T (p.Ala2434=) c.138A>T (p.Ala46=) c.236A>T n.7671A>T c.7575A>T (p.Ala2525=) | dbSNP |
| 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.32357796G>A | CA387745055 | BRCA2 | c.7672G>A (p.Glu2558Lys) c.7303G>A (p.Glu2435Lys) c.139G>A (p.Glu47Lys) c.237G>A n.7672G>A c.7576G>A (p.Glu2526Lys) | ClinVar |
| 13 | g.32357796G>C | CA10575928 | BRCA2 | c.7672G>C (p.Glu2558Gln) c.7303G>C (p.Glu2435Gln) c.139G>C (p.Glu47Gln) c.237G>C n.7672G>C c.7576G>C (p.Glu2526Gln) | ClinVar dbSNP |
| 13 | g.32357796G= | CA2082818059 | BRCA2 | c.7672G= (p.Glu2558=) c.7303G= (p.Glu2435=) c.139G= (p.Glu47=) c.237G= n.7672G= c.7576G= (p.Glu2526=) | |
| 13 | g.32357796G>T | CA387745058 | BRCA2 | c.7672G>T (p.Glu2558Ter) c.7303G>T (p.Glu2435Ter) c.139G>T (p.Glu47Ter) c.237G>T n.7672G>T c.7576G>T (p.Glu2526Ter) | |
| 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=) |