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.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
| 13 | g.32362523_32362591del | CA2695217933 | BRCA2 | c.7806_7874del c.7437_7505del c.273_341del c.7814_7882del (p.Gly2605_Ile2627del) c.371_439del n.7814_7882del c.7710_7778del | |
| 13 | g.32362524_32362624del | CA913203499 | BRCA2 | c.7807_7907del (p.Ala2603CysfsTer4) c.7438_7538del (p.Ala2480CysfsTer4) c.274_374del (p.Ala92CysfsTer4) c.7815_7915del (p.Leu2606AlafsTer?) c.372_472del n.7815_7915del c.7711_7811del (p.Ala2571CysfsTer4) | |
| 13 | g.32362538del | CA483260813 | BRCA2 | c.7821del (p.Pro2608GlnfsTer?) c.7452del (p.Pro2485GlnfsTer?) c.288del (p.Pro97GlnfsTer?) c.7829del (p.Leu2610ProfsTer10) c.386del n.7829del c.7725del (p.Pro2576GlnfsTer?) | COSMIC |
| 13 | g.32362538T>A | CA483260810 | BRCA2 | c.7821T>A (p.Thr2607=) c.7452T>A (p.Thr2484=) c.288T>A (p.Thr96=) c.7829T>A (p.Leu2610His) c.386T>A n.7829T>A c.7725T>A (p.Thr2575=) | |
| 13 | g.32362538T>C | CA483260811 | BRCA2 | c.7821T>C (p.Thr2607=) c.7452T>C (p.Thr2484=) c.288T>C (p.Thr96=) c.7829T>C (p.Leu2610Pro) c.386T>C n.7829T>C c.7725T>C (p.Thr2575=) | ClinVar dbSNP |
| 13 | g.32362538T>G | CA483260812 | BRCA2 | c.7821T>G (p.Thr2607=) c.7452T>G (p.Thr2484=) c.288T>G (p.Thr96=) c.7829T>G (p.Leu2610Arg) c.386T>G n.7829T>G c.7725T>G (p.Thr2575=) | |
| 13 | g.32362538T= | CA2082830471 | BRCA2 | c.7821T= (p.Thr2607=) c.7452T= (p.Thr2484=) c.288T= (p.Thr96=) c.7829T= (p.Leu2610=) c.386T= n.7829T= c.7725T= (p.Thr2575=) | |
| 13 | g.32362539C>A | CA387746987 | BRCA2 | c.7822C>A (p.Pro2608Thr) c.7453C>A (p.Pro2485Thr) c.289C>A (p.Pro97Thr) c.7830C>A (p.Leu2610=) c.387C>A n.7830C>A c.7726C>A (p.Pro2576Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32362539C= | CA2082830486 | BRCA2 | c.7822C= (p.Pro2608=) c.7453C= (p.Pro2485=) c.289C= (p.Pro97=) c.7830C= (p.Leu2610=) c.387C= n.7830C= c.7726C= (p.Pro2576=) | |
| 13 | g.32362539C>G | CA10585900 | BRCA2 | c.7822C>G (p.Pro2608Ala) c.7453C>G (p.Pro2485Ala) c.289C>G (p.Pro97Ala) c.7830C>G (p.Leu2610=) c.387C>G n.7830C>G c.7726C>G (p.Pro2576Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32362539C>T | CA387746989 | BRCA2 | c.7822C>T (p.Pro2608Ser) c.7453C>T (p.Pro2485Ser) c.289C>T (p.Pro97Ser) c.7830C>T (p.Leu2610=) c.387C>T n.7830C>T c.7726C>T (p.Pro2576Ser) | dbSNP COSMIC COSMIC |
| 13 | g.32362540dup | CA16614005 | BRCA2 | c.7823dup (p.Gly2609ArgfsTer9) c.7454dup (p.Gly2486ArgfsTer9) c.290dup (p.Gly98ArgfsTer9) c.7831dup (p.Gln2611ProfsTer?) c.388dup n.7831dup c.7727dup (p.Gly2577ArgfsTer9) | ClinVar dbSNP |
| 13 | g.32362540C>A | CA387746992 | BRCA2 | c.7823C>A (p.Pro2608Gln) c.7454C>A (p.Pro2485Gln) c.290C>A (p.Pro97Gln) c.7831C>A (p.Gln2611Lys) c.388C>A n.7831C>A c.7727C>A (p.Pro2576Gln) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362540C= | CA2082830501 | BRCA2 | c.7823C= (p.Pro2608=) c.7454C= (p.Pro2485=) c.290C= (p.Pro97=) c.7831C= (p.Gln2611=) c.388C= n.7831C= c.7727C= (p.Pro2576=) | |
| 13 | g.32362540C>G | CA387746995 | BRCA2 | c.7823C>G (p.Pro2608Arg) c.7454C>G (p.Pro2485Arg) c.290C>G (p.Pro97Arg) c.7831C>G (p.Gln2611Glu) c.388C>G n.7831C>G c.7727C>G (p.Pro2576Arg) | dbSNP |
| 13 | g.32362540C>T | CA387746994 | BRCA2 | c.7823C>T (p.Pro2608Leu) c.7454C>T (p.Pro2485Leu) c.290C>T (p.Pro97Leu) c.7831C>T (p.Gln2611Ter) c.388C>T n.7831C>T c.7727C>T (p.Pro2576Leu) | ClinVar dbSNP |
| 13 | g.32362541A>C | CA483260814 | BRCA2 | c.7824A>C (p.Pro2608=) c.7455A>C (p.Pro2485=) c.291A>C (p.Pro97=) c.7832A>C (p.Gln2611Pro) c.389A>C n.7832A>C c.7728A>C (p.Pro2576=) | |
| 13 | g.32362541A>G | CA483260815 | BRCA2 | c.7824A>G (p.Pro2608=) c.7455A>G (p.Pro2485=) c.291A>G (p.Pro97=) c.7832A>G (p.Gln2611Arg) c.389A>G n.7832A>G c.7728A>G (p.Pro2576=) | ClinVar dbSNP |
| 13 | g.32362541A>T | CA483260816 | BRCA2 | c.7824A>T (p.Pro2608=) c.7455A>T (p.Pro2485=) c.291A>T (p.Pro97=) c.7832A>T (p.Gln2611Leu) c.389A>T n.7832A>T c.7728A>T (p.Pro2576=) | dbSNP |
| 13 | g.32362542G>A | CA387746996 | BRCA2 | c.7825G>A (p.Gly2609Ser) c.7456G>A (p.Gly2486Ser) c.292G>A (p.Gly98Ser) c.7833G>A (p.Gln2611=) c.390G>A n.7833G>A c.7729G>A (p.Gly2577Ser) | ClinVar dbSNP |
| 13 | g.32362542G>C | CA387746997 | BRCA2 | c.7825G>C (p.Gly2609Arg) c.7456G>C (p.Gly2486Arg) c.292G>C (p.Gly98Arg) c.7833G>C (p.Gln2611His) c.390G>C n.7833G>C c.7729G>C (p.Gly2577Arg) | dbSNP |
| 13 | g.32362542G>T | CA387746998 | BRCA2 | c.7825G>T (p.Gly2609Cys) c.7456G>T (p.Gly2486Cys) c.292G>T (p.Gly98Cys) c.7833G>T (p.Gln2611His) c.390G>T n.7833G>T c.7729G>T (p.Gly2577Cys) | |
| 13 | g.32362543G>A | CA025300 | BRCA2 | c.7826G>A (p.Gly2609Asp) c.7457G>A (p.Gly2486Asp) c.293G>A (p.Gly98Asp) c.7834G>A (p.Val2612Met) c.391G>A n.7834G>A c.7730G>A (p.Gly2577Asp) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362543G>C | CA025301 | BRCA2 | c.7826G>C (p.Gly2609Ala) c.7457G>C (p.Gly2486Ala) c.293G>C (p.Gly98Ala) c.7834G>C (p.Val2612Leu) c.391G>C n.7834G>C c.7730G>C (p.Gly2577Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362543G= | CA2082830516 | BRCA2 | c.7826G= (p.Gly2609=) c.7457G= (p.Gly2486=) c.293G= (p.Gly98=) c.7834G= (p.Val2612=) c.391G= n.7834G= c.7730G= (p.Gly2577=) | |
| 13 | g.32362543G>T | CA10579757 | BRCA2 | c.7826G>T (p.Gly2609Val) c.7457G>T (p.Gly2486Val) c.293G>T (p.Gly98Val) c.7834G>T (p.Val2612Leu) c.391G>T n.7834G>T c.7730G>T (p.Gly2577Val) | ClinVar dbSNP |
| 13 | g.32362544T>A | CA483260817 | BRCA2 | c.7827T>A (p.Gly2609=) c.7458T>A (p.Gly2486=) c.294T>A (p.Gly98=) c.7835T>A (p.Val2612Glu) c.392T>A n.7835T>A c.7731T>A (p.Gly2577=) | ClinVar |
| 13 | g.32362544T>C | CA483260819 | BRCA2 | c.7827T>C (p.Gly2609=) c.7458T>C (p.Gly2486=) c.294T>C (p.Gly98=) c.7835T>C (p.Val2612Ala) c.392T>C n.7835T>C c.7731T>C (p.Gly2577=) | ClinVar dbSNP |
| 13 | g.32362544T>G | CA483260818 | BRCA2 | c.7827T>G (p.Gly2609=) c.7458T>G (p.Gly2486=) c.294T>G (p.Gly98=) c.7835T>G (p.Val2612Gly) c.392T>G n.7835T>G c.7731T>G (p.Gly2577=) | |
| 13 | g.32362544dup | CA2580087394 | BRCA2 | c.7827dup (p.Val2610CysfsTer8) c.7458dup (p.Val2487CysfsTer8) c.294dup (p.Val99CysfsTer8) c.7835dup (p.Trp2613ValfsTer?) c.392dup n.7835dup c.7731dup (p.Val2578CysfsTer8) | ClinVar |
| 13 | g.32362545G>A | CA025302 | BRCA2 | c.7828G>A (p.Val2610Met) c.7459G>A (p.Val2487Met) c.295G>A (p.Val99Met) c.7836G>A (p.Val2612=) c.393G>A n.7836G>A c.7732G>A (p.Val2578Met) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362545G>C | CA387746999 | BRCA2 | c.7828G>C (p.Val2610Leu) c.7459G>C (p.Val2487Leu) c.295G>C (p.Val99Leu) c.7836G>C (p.Val2612=) c.393G>C n.7836G>C c.7732G>C (p.Val2578Leu) | dbSNP |
| 13 | g.32362545G= | CA2082830530 | BRCA2 | c.7828G= (p.Val2610=) c.7459G= (p.Val2487=) c.295G= (p.Val99=) c.7836G= (p.Val2612=) c.393G= n.7836G= c.7732G= (p.Val2578=) | |
| 13 | g.32362545G>T | CA387747000 | BRCA2 | c.7828G>T (p.Val2610Leu) c.7459G>T (p.Val2487Leu) c.295G>T (p.Val99Leu) c.7836G>T (p.Val2612=) c.393G>T n.7836G>T c.7732G>T (p.Val2578Leu) | dbSNP |
| 13 | g.32362545_32362551del | CA2695217937 | BRCA2 | c.7828_7834del (p.Val2610GlnfsTer?) c.7459_7465del (p.Val2487GlnfsTer?) c.295_301del (p.Val99GlnfsTer?) c.7836_7842del (p.Trp2613LysfsTer5) c.393_399del n.7836_7842del c.7732_7738del (p.Val2578GlnfsTer?) | |
| 13 | g.32362546T>A | CA387747001 | BRCA2 | c.7829T>A (p.Val2610Glu) c.7460T>A (p.Val2487Glu) c.296T>A (p.Val99Glu) c.7837T>A (p.Trp2613Arg) c.394T>A n.7837T>A c.7733T>A (p.Val2578Glu) | |
| 13 | g.32362546T>C | CA387747002 | BRCA2 | c.7829T>C (p.Val2610Ala) c.7460T>C (p.Val2487Ala) c.296T>C (p.Val99Ala) c.7837T>C (p.Trp2613Arg) c.394T>C n.7837T>C c.7733T>C (p.Val2578Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32362546T>G | CA387747003 | BRCA2 | c.7829T>G (p.Val2610Gly) c.7460T>G (p.Val2487Gly) c.296T>G (p.Val99Gly) c.7837T>G (p.Trp2613Gly) c.394T>G n.7837T>G c.7733T>G (p.Val2578Gly) | |
| 13 | g.32362546T= | CA2082830542 | BRCA2 | c.7829T= (p.Val2610=) c.7460T= (p.Val2487=) c.296T= (p.Val99=) c.7837T= (p.Trp2613=) c.394T= n.7837T= c.7733T= (p.Val2578=) | |
| 13 | g.32362546dup | CA645509331 | BRCA2 | c.7829dup (p.Asp2611GlyfsTer7) c.7460dup (p.Asp2488GlyfsTer7) c.296dup (p.Asp100GlyfsTer7) c.7837dup (p.Trp2613LeufsTer?) c.394dup n.7837dup c.7733dup (p.Asp2579GlyfsTer7) | ClinVar dbSNP |
| 13 | g.32362547G>A | CA025303 | BRCA2 | c.7830G>A (p.Val2610=) c.7461G>A (p.Val2487=) c.297G>A (p.Val99=) c.7838G>A (p.Trp2613Ter) c.395G>A n.7838G>A c.7734G>A (p.Val2578=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32362547G>C | CA483260820 | BRCA2 | c.7830G>C (p.Val2610=) c.7461G>C (p.Val2487=) c.297G>C (p.Val99=) c.7838G>C (p.Trp2613Ser) c.395G>C n.7838G>C c.7734G>C (p.Val2578=) | |
| 13 | g.32362547G= | CA2082830553 | BRCA2 | c.7830G= (p.Val2610=) c.7461G= (p.Val2487=) c.297G= (p.Val99=) c.7838G= (p.Trp2613=) c.395G= n.7838G= c.7734G= (p.Val2578=) | |
| 13 | g.32362547G>T | CA16614216 | BRCA2 | c.7830G>T (p.Val2610=) c.7461G>T (p.Val2487=) c.297G>T (p.Val99=) c.7838G>T (p.Trp2613Leu) c.395G>T n.7838G>T c.7734G>T (p.Val2578=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362548G>A | CA387747004 | BRCA2 | c.7831G>A (p.Asp2611Asn) c.7462G>A (p.Asp2488Asn) c.298G>A (p.Asp100Asn) c.7839G>A (p.Trp2613Ter) c.396G>A n.7839G>A c.7735G>A (p.Asp2579Asn) | ClinVar dbSNP |
| 13 | g.32362548G>C | CA387747005 | BRCA2 | c.7831G>C (p.Asp2611His) c.7462G>C (p.Asp2488His) c.298G>C (p.Asp100His) c.7839G>C (p.Trp2613Cys) c.396G>C n.7839G>C c.7735G>C (p.Asp2579His) | dbSNP |
| 13 | g.32362548G= | CA2082830564 | BRCA2 | c.7831G= (p.Asp2611=) c.7462G= (p.Asp2488=) c.298G= (p.Asp100=) c.7839G= (p.Trp2613=) c.396G= n.7839G= c.7735G= (p.Asp2579=) | |
| 13 | g.32362548G>T | CA387747006 | BRCA2 | c.7831G>T (p.Asp2611Tyr) c.7462G>T (p.Asp2488Tyr) c.298G>T (p.Asp100Tyr) c.7839G>T (p.Trp2613Cys) c.396G>T n.7839G>T c.7735G>T (p.Asp2579Tyr) | dbSNP |
| 13 | g.32362548_32362554delinsGATCCAA | CA2082830572 | BRCA2 | c.7831_7837delinsGATCCAA (p.Asp2611=) c.7462_7468delinsGATCCAA (p.Asp2488=) c.298_304delinsGATCCAA (p.Asp100=) c.7839_7845delinsGATCCAA (p.Trp2613=) c.396_402delinsGATCCAA n.7839_7845delinsGATCCAA c.7735_7741delinsGATCCAA (p.Asp2579=) |