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.32355120_32355121del | CA916080533 | BRCA2 | c.7267_7268del (p.Val2423Ter) c.6898_6899del (p.Val2300Ter) n.7267_7268del c.7171_7172del (p.Val2391Ter) | ClinVar dbSNP |
| 13 | g.32355120G>A | CA387740572 | BRCA2 | c.7267G>A (p.Val2423Ile) c.6898G>A (p.Val2300Ile) n.7267G>A c.7171G>A (p.Val2391Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355120G>C | CA387740574 | BRCA2 | c.7267G>C (p.Val2423Leu) c.6898G>C (p.Val2300Leu) n.7267G>C c.7171G>C (p.Val2391Leu) | |
| 13 | g.32355120G= | CA2082810381 | BRCA2 | c.7267G= (p.Val2423=) c.6898G= (p.Val2300=) n.7267G= c.7171G= (p.Val2391=) | |
| 13 | g.32355120G>T | CA387740576 | BRCA2 | c.7267G>T (p.Val2423Phe) c.6898G>T (p.Val2300Phe) n.7267G>T c.7171G>T (p.Val2391Phe) | gnomAD v4 |
| 13 | g.32355121T>A | CA387740579 | BRCA2 | c.7268T>A (p.Val2423Asp) c.6899T>A (p.Val2300Asp) n.7268T>A c.7172T>A (p.Val2391Asp) | dbSNP |
| 13 | g.32355121T>C | CA387740582 | BRCA2 | c.7268T>C (p.Val2423Ala) c.6899T>C (p.Val2300Ala) n.7268T>C c.7172T>C (p.Val2391Ala) | |
| 13 | g.32355121T>G | CA387740591 | BRCA2 | c.7268T>G (p.Val2423Gly) c.6899T>G (p.Val2300Gly) n.7268T>G c.7172T>G (p.Val2391Gly) | dbSNP |
| 13 | g.32355122T>A | CA483439799 | BRCA2 | c.7269T>A (p.Val2423=) c.6900T>A (p.Val2300=) n.7269T>A c.7173T>A (p.Val2391=) | dbSNP |
| 13 | g.32355122T>C | CA247468611 | BRCA2 | c.7269T>C (p.Val2423=) c.6900T>C (p.Val2300=) n.7269T>C c.7173T>C (p.Val2391=) | ClinVar dbSNP |
| 13 | g.32355122T>G | CA483439798 | BRCA2 | c.7269T>G (p.Val2423=) c.6900T>G (p.Val2300=) n.7269T>G c.7173T>G (p.Val2391=) | |
| 13 | g.32355122T= | CA2082810397 | BRCA2 | c.7269T= (p.Val2423=) c.6900T= (p.Val2300=) n.7269T= c.7173T= (p.Val2391=) | |
| 13 | g.32355123A= | CA2082810405 | BRCA2 | c.7270A= (p.Arg2424=) c.6901A= (p.Arg2301=) n.7270A= c.7174A= (p.Arg2392=) | |
| 13 | g.32355123A>C | CA483439800 | BRCA2 | c.7270A>C (p.Arg2424=) c.6901A>C (p.Arg2301=) n.7270A>C c.7174A>C (p.Arg2392=) | ClinVar dbSNP |
| 13 | g.32355123A>G | CA025008 | BRCA2 | c.7270A>G (p.Arg2424Gly) c.6901A>G (p.Arg2301Gly) n.7270A>G c.7174A>G (p.Arg2392Gly) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32355123A>T | CA387740596 | BRCA2 | c.7270A>T (p.Arg2424Trp) c.6901A>T (p.Arg2301Trp) n.7270A>T c.7174A>T (p.Arg2392Trp) | dbSNP |
| 13 | g.32355123dup | CA1139663172 | BRCA2 | c.7270dup (p.Arg2424LysfsTer4) c.6901dup (p.Arg2301LysfsTer4) n.7270dup c.7174dup (p.Arg2392LysfsTer4) | ClinVar dbSNP |
| 13 | g.32355124G>A | CA387740597 | BRCA2 | c.7271G>A (p.Arg2424Lys) c.6902G>A (p.Arg2301Lys) n.7271G>A c.7175G>A (p.Arg2392Lys) | ClinVar dbSNP |
| 13 | g.32355124G>C | CA6941076 | BRCA2 | c.7271G>C (p.Arg2424Thr) c.6902G>C (p.Arg2301Thr) n.7271G>C c.7175G>C (p.Arg2392Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355124G= | CA2082810415 | BRCA2 | c.7271G= (p.Arg2424=) c.6902G= (p.Arg2301=) n.7271G= c.7175G= (p.Arg2392=) | |
| 13 | g.32355124G>T | CA387740611 | BRCA2 | c.7271G>T (p.Arg2424Met) c.6902G>T (p.Arg2301Met) n.7271G>T c.7175G>T (p.Arg2392Met) | dbSNP |
| 13 | g.32355125G>A | CA483439801 | BRCA2 | c.7272G>A (p.Arg2424=) c.6903G>A (p.Arg2301=) n.7272G>A c.7176G>A (p.Arg2392=) | ClinVar dbSNP |
| 13 | g.32355125G>C | CA387740613 | BRCA2 | c.7272G>C (p.Arg2424Ser) c.6903G>C (p.Arg2301Ser) n.7272G>C c.7176G>C (p.Arg2392Ser) | ClinVar dbSNP |
| 13 | g.32355125G= | CA2082810443 | BRCA2 | c.7272G= (p.Arg2424=) c.6903G= (p.Arg2301=) n.7272G= c.7176G= (p.Arg2392=) | |
| 13 | g.32355125G>T | CA387740616 | BRCA2 | c.7272G>T (p.Arg2424Ser) c.6903G>T (p.Arg2301Ser) n.7272G>T c.7176G>T (p.Arg2392Ser) | dbSNP |
| 13 | g.32355125_32355126delinsGA | CA2082810441 | BRCA2 | c.7272_7273delinsGA (p.Arg2424=) c.6903_6904delinsGA (p.Arg2301=) n.7272_7273delinsGA c.7176_7177delinsGA (p.Arg2392=) | |
| 13 | g.32355126A= | CA2082810454 | BRCA2 | c.7273A= (p.Asn2425=) c.6904A= (p.Asn2302=) n.7273A= c.7177A= (p.Asn2393=) | |
| 13 | g.32355126A>C | CA387740624 | BRCA2 | c.7273A>C (p.Asn2425His) c.6904A>C (p.Asn2302His) n.7273A>C c.7177A>C (p.Asn2393His) | |
| 13 | g.32355126A>G | CA10579731 | BRCA2 | c.7273A>G (p.Asn2425Asp) c.6904A>G (p.Asn2302Asp) n.7273A>G c.7177A>G (p.Asn2393Asp) | ClinVar dbSNP |
| 13 | g.32355126A>T | CA387740618 | BRCA2 | c.7273A>T (p.Asn2425Tyr) c.6904A>T (p.Asn2302Tyr) n.7273A>T c.7177A>T (p.Asn2393Tyr) | dbSNP |
| 13 | g.32355127del | CA913191193 | BRCA2 | c.7274del (p.Asn2425IlefsTer?) c.6905del (p.Asn2302IlefsTer?) n.7274del c.7178del (p.Asn2393IlefsTer?) | ClinVar dbSNP |
| 13 | g.32355127A>C | CA387740627 | BRCA2 | c.7274A>C (p.Asn2425Thr) c.6905A>C (p.Asn2302Thr) n.7274A>C c.7178A>C (p.Asn2393Thr) | dbSNP |
| 13 | g.32355127A>G | CA387740632 | BRCA2 | c.7274A>G (p.Asn2425Ser) c.6905A>G (p.Asn2302Ser) n.7274A>G c.7178A>G (p.Asn2393Ser) | |
| 13 | g.32355127A>T | CA387740633 | BRCA2 | c.7274A>T (p.Asn2425Ile) c.6905A>T (p.Asn2302Ile) n.7274A>T c.7178A>T (p.Asn2393Ile) | dbSNP |
| 13 | g.32355128T>A | CA387740634 | BRCA2 | c.7275T>A (p.Asn2425Lys) c.6906T>A (p.Asn2302Lys) n.7275T>A c.7179T>A (p.Asn2393Lys) | dbSNP |
| 13 | g.32355128T>C | CA483439802 | BRCA2 | c.7275T>C (p.Asn2425=) c.6906T>C (p.Asn2302=) n.7275T>C c.7179T>C (p.Asn2393=) | |
| 13 | g.32355128T>G | CA387740638 | BRCA2 | c.7275T>G (p.Asn2425Lys) c.6906T>G (p.Asn2302Lys) n.7275T>G c.7179T>G (p.Asn2393Lys) | dbSNP |
| 13 | g.32355129A= | CA2082810495 | BRCA2 | c.7276A= (p.Ile2426=) c.6907A= (p.Ile2303=) n.7276A= c.7180A= (p.Ile2394=) | |
| 13 | g.32355129A>C | CA387740643 | BRCA2 | c.7276A>C (p.Ile2426Leu) c.6907A>C (p.Ile2303Leu) n.7276A>C c.7180A>C (p.Ile2394Leu) | |
| 13 | g.32355129A>G | CA387740642 | BRCA2 | c.7276A>G (p.Ile2426Val) c.6907A>G (p.Ile2303Val) n.7276A>G c.7180A>G (p.Ile2394Val) | ClinVar dbSNP |
| 13 | g.32355129A>T | CA387740640 | BRCA2 | c.7276A>T (p.Ile2426Phe) c.6907A>T (p.Ile2303Phe) n.7276A>T c.7180A>T (p.Ile2394Phe) | |
| 13 | g.32355129_32355134delinsATTAAC | CA2082810503 | BRCA2 | c.7276_7281delinsATTAAC (p.Ile2426=) c.6907_6912delinsATTAAC (p.Ile2303=) n.7276_7281delinsATTAAC c.7180_7185delinsATTAAC (p.Ile2394=) | |
| 13 | g.32355129_32355136delinsATTAACTT | CA2082810492 | BRCA2 | c.7276_7283delinsATTAACTT (p.Ile2426=) c.6907_6914delinsATTAACTT (p.Ile2303=) n.7276_7283delinsATTAACTT c.7180_7187delinsATTAACTT (p.Ile2394=) | |
| 13 | g.32355130T>A | CA387740648 | BRCA2 | c.7277T>A (p.Ile2426Asn) c.6908T>A (p.Ile2303Asn) n.7277T>A c.7181T>A (p.Ile2394Asn) | dbSNP |
| 13 | g.32355130T>C | CA387740652 | BRCA2 | c.7277T>C (p.Ile2426Thr) c.6908T>C (p.Ile2303Thr) n.7277T>C c.7181T>C (p.Ile2394Thr) | ClinVar dbSNP |
| 13 | g.32355130T>G | CA387740659 | BRCA2 | c.7277T>G (p.Ile2426Ser) c.6908T>G (p.Ile2303Ser) n.7277T>G c.7181T>G (p.Ile2394Ser) | |
| 13 | g.32355130T= | CA2082810521 | BRCA2 | c.7277T= (p.Ile2426=) c.6908T= (p.Ile2303=) n.7277T= c.7181T= (p.Ile2394=) | |
| 13 | g.32355131del | CA2727917814 | BRCA2 | c.7278del (p.Asn2427ThrfsTer?) c.6909del (p.Asn2304ThrfsTer?) n.7278del c.7182del (p.Asn2395ThrfsTer?) | dbSNP |
| 13 | g.32355130_32355136del | CA10589420 | BRCA2 | c.7277_7283del (p.Ile2426ArgfsTer?) c.6908_6914del (p.Ile2303ArgfsTer?) n.7277_7283del c.7181_7187del (p.Ile2394ArgfsTer?) | ClinVar dbSNP |