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.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32337069_32337079del | CA2727924196 | BRCA2 | c.2714_2724del (p.Asn905ThrfsTer3) c.2345_2355del (p.Asn782ThrfsTer3) n.2714_2724del | dbSNP |
| 13 | g.32337072C>A | CA387773556 | BRCA2 | c.2717C>A (p.Thr906Asn) c.2348C>A (p.Thr783Asn) n.2717C>A | dbSNP |
| 13 | g.32337072C= | CA2082810754 | BRCA2 | c.2717C= (p.Thr906=) c.2348C= (p.Thr783=) n.2717C= | |
| 13 | g.32337072C>G | CA387773558 | BRCA2 | c.2717C>G (p.Thr906Ser) c.2348C>G (p.Thr783Ser) n.2717C>G | dbSNP |
| 13 | g.32337072C>T | CA387773560 | BRCA2 | c.2717C>T (p.Thr906Ile) c.2348C>T (p.Thr783Ile) n.2717C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337073T>A | CA483437220 | BRCA2 | c.2718T>A (p.Thr906=) c.2349T>A (p.Thr783=) n.2718T>A | |
| 13 | g.32337073T>C | CA483437221 | BRCA2 | c.2718T>C (p.Thr906=) c.2349T>C (p.Thr783=) n.2718T>C | ClinVar |
| 13 | g.32337073T>G | CA483437222 | BRCA2 | c.2718T>G (p.Thr906=) c.2349T>G (p.Thr783=) n.2718T>G | |
| 13 | g.32337074_32337082del | CA2622601025 | BRCA2 | c.2719_2727del (p.Lys907_Leu909del) c.2350_2358del (p.Lys784_Leu786del) n.2719_2727del | gnomAD v4 |
| 13 | g.32337074A= | CA2082810769 | BRCA2 | c.2719A= (p.Lys907=) c.2350A= (p.Lys784=) n.2719A= | |
| 13 | g.32337074A>C | CA387773561 | BRCA2 | c.2719A>C (p.Lys907Gln) c.2350A>C (p.Lys784Gln) n.2719A>C | |
| 13 | g.32337074A>G | CA10579549 | BRCA2 | c.2719A>G (p.Lys907Glu) c.2350A>G (p.Lys784Glu) n.2719A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337074A>T | CA387773563 | BRCA2 | c.2719A>T (p.Lys907Ter) c.2350A>T (p.Lys784Ter) n.2719A>T | dbSNP |
| 13 | g.32337075A>C | CA387773566 | BRCA2 | c.2720A>C (p.Lys907Thr) c.2351A>C (p.Lys784Thr) n.2720A>C | dbSNP |
| 13 | g.32337075A>G | CA387773567 | BRCA2 | c.2720A>G (p.Lys907Arg) c.2351A>G (p.Lys784Arg) n.2720A>G | dbSNP |
| 13 | g.32337075A>T | CA387773569 | BRCA2 | c.2720A>T (p.Lys907Met) c.2351A>T (p.Lys784Met) n.2720A>T | dbSNP |
| 13 | g.32337076G>A | CA483437225 | BRCA2 | c.2721G>A (p.Lys907=) c.2352G>A (p.Lys784=) n.2721G>A | dbSNP |
| 13 | g.32337076G>C | CA387773571 | BRCA2 | c.2721G>C (p.Lys907Asn) c.2352G>C (p.Lys784Asn) n.2721G>C | ClinVar dbSNP |
| 13 | g.32337076G>T | CA387773573 | BRCA2 | c.2721G>T (p.Lys907Asn) c.2352G>T (p.Lys784Asn) n.2721G>T | dbSNP |
| 13 | g.32337077G>A | CA387773575 | BRCA2 | c.2722G>A (p.Glu908Lys) c.2353G>A (p.Glu785Lys) n.2722G>A | dbSNP |
| 13 | g.32337077G>C | CA387773576 | BRCA2 | c.2722G>C (p.Glu908Gln) c.2353G>C (p.Glu785Gln) n.2722G>C | dbSNP |
| 13 | g.32337077G>T | CA387773578 | BRCA2 | c.2722G>T (p.Glu908Ter) c.2353G>T (p.Glu785Ter) n.2722G>T | ClinVar dbSNP |
| 13 | g.32337078A= | CA2082810796 | BRCA2 | c.2723A= (p.Glu908=) c.2354A= (p.Glu785=) n.2723A= | |
| 13 | g.32337078A>C | CA016168 | BRCA2 | c.2723A>C (p.Glu908Ala) c.2354A>C (p.Glu785Ala) n.2723A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337078A>G | CA387773581 | BRCA2 | c.2723A>G (p.Glu908Gly) c.2354A>G (p.Glu785Gly) n.2723A>G | dbSNP |
| 13 | g.32337078A>T | CA387773580 | BRCA2 | c.2723A>T (p.Glu908Val) c.2354A>T (p.Glu785Val) n.2723A>T | dbSNP |
| 13 | g.32337079A= | CA2082810805 | BRCA2 | c.2724A= (p.Glu908=) c.2355A= (p.Glu785=) n.2724A= | |
| 13 | g.32337079A>C | CA387773584 | BRCA2 | c.2724A>C (p.Glu908Asp) c.2355A>C (p.Glu785Asp) n.2724A>C | dbSNP COSMIC COSMIC |
| 13 | g.32337079A>G | CA247502858 | BRCA2 | c.2724A>G (p.Glu908=) c.2355A>G (p.Glu785=) n.2724A>G | ClinVar dbSNP |
| 13 | g.32337079A>T | CA387773585 | BRCA2 | c.2724A>T (p.Glu908Asp) c.2355A>T (p.Glu785Asp) n.2724A>T | dbSNP |
| 13 | g.32337080C>A | CA10579550 | BRCA2 | c.2725C>A (p.Leu909Ile) c.2356C>A (p.Leu786Ile) n.2725C>A | ClinVar dbSNP |
| 13 | g.32337080C= | CA2082810812 | BRCA2 | c.2725C= (p.Leu909=) c.2356C= (p.Leu786=) n.2725C= | |
| 13 | g.32337080C>G | CA387773586 | BRCA2 | c.2725C>G (p.Leu909Val) c.2356C>G (p.Leu786Val) n.2725C>G | dbSNP |
| 13 | g.32337080C>T | CA387773587 | BRCA2 | c.2725C>T (p.Leu909Phe) c.2356C>T (p.Leu786Phe) n.2725C>T | ClinVar dbSNP |
| 13 | g.32337081T>A | CA387773588 | BRCA2 | c.2726T>A (p.Leu909His) c.2357T>A (p.Leu786His) n.2726T>A | dbSNP |
| 13 | g.32337081T>C | CA387773589 | BRCA2 | c.2726T>C (p.Leu909Pro) c.2357T>C (p.Leu786Pro) n.2726T>C | |
| 13 | g.32337081T>G | CA387773590 | BRCA2 | c.2726T>G (p.Leu909Arg) c.2357T>G (p.Leu786Arg) n.2726T>G | |
| 13 | g.32337082T>A | CA483437233 | BRCA2 | c.2727T>A (p.Leu909=) c.2358T>A (p.Leu786=) n.2727T>A | dbSNP |
| 13 | g.32337082T>C | CA483437234 | BRCA2 | c.2727T>C (p.Leu909=) c.2358T>C (p.Leu786=) n.2727T>C | dbSNP |
| 13 | g.32337082T>G | CA483437237 | BRCA2 | c.2727T>G (p.Leu909=) c.2358T>G (p.Leu786=) n.2727T>G | |
| 13 | g.32337083C>A | CA387773591 | BRCA2 | c.2728C>A (p.His910Asn) c.2359C>A (p.His787Asn) n.2728C>A | dbSNP |
| 13 | g.32337083C= | CA2082810825 | BRCA2 | c.2728C= (p.His910=) c.2359C= (p.His787=) n.2728C= | |
| 13 | g.32337083C>G | CA387773592 | BRCA2 | c.2728C>G (p.His910Asp) c.2359C>G (p.His787Asp) n.2728C>G | dbSNP |
| 13 | g.32337083C>T | CA387773593 | BRCA2 | c.2728C>T (p.His910Tyr) c.2359C>T (p.His787Tyr) n.2728C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337084A= | CA2082810834 | BRCA2 | c.2729A= (p.His910=) c.2360A= (p.His787=) n.2729A= | |
| 13 | g.32337084A>C | CA387773594 | BRCA2 | c.2729A>C (p.His910Pro) c.2360A>C (p.His787Pro) n.2729A>C | |
| 13 | g.32337084A>G | CA6940625 | BRCA2 | c.2729A>G (p.His910Arg) c.2360A>G (p.His787Arg) n.2729A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337084A>T | CA387773595 | BRCA2 | c.2729A>T (p.His910Leu) c.2360A>T (p.His787Leu) n.2729A>T | dbSNP |