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.32355076_32355080delinsCACCT | CA2082809869 | BRCA2 | c.7223_7227delinsCACCT (p.Pro2408=) c.6854_6858delinsCACCT (p.Pro2285=) n.7223_7227delinsCACCT c.7127_7131delinsCACCT (p.Pro2376=) | |
| 13 | g.32355077_32355080del | CA024972 | BRCA2 | c.7224_7227del (p.Pro2409LeufsTer?) c.6855_6858del (p.Pro2286LeufsTer?) n.7224_7227del c.7128_7131del (p.Pro2377LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355079del | CA024977 | BRCA2 | c.7226del (p.Pro2409LeufsTer?) c.6857del (p.Pro2286LeufsTer?) n.7226del c.7130del (p.Pro2377LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355079C>A | CA387740213 | BRCA2 | c.7226C>A (p.Pro2409His) c.6857C>A (p.Pro2286His) n.7226C>A c.7130C>A (p.Pro2377His) | |
| 13 | g.32355079C= | CA2082809913 | BRCA2 | c.7226C= (p.Pro2409=) c.6857C= (p.Pro2286=) n.7226C= c.7130C= (p.Pro2377=) | |
| 13 | g.32355079C>G | CA387740217 | BRCA2 | c.7226C>G (p.Pro2409Arg) c.6857C>G (p.Pro2286Arg) n.7226C>G c.7130C>G (p.Pro2377Arg) | ClinVar dbSNP |
| 13 | g.32355079C>T | CA6941071 | BRCA2 | c.7226C>T (p.Pro2409Leu) c.6857C>T (p.Pro2286Leu) n.7226C>T c.7130C>T (p.Pro2377Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355079_32355080delinsCT | CA2082809916 | BRCA2 | c.7226_7227delinsCT (p.Pro2409=) c.6857_6858delinsCT (p.Pro2286=) n.7226_7227delinsCT c.7130_7131delinsCT (p.Pro2377=) | |
| 13 | g.32355080T>A | CA483439760 | BRCA2 | c.7227T>A (p.Pro2409=) c.6858T>A (p.Pro2286=) n.7227T>A c.7131T>A (p.Pro2377=) | ClinVar dbSNP |
| 13 | g.32355080T>C | CA483439762 | BRCA2 | c.7227T>C (p.Pro2409=) c.6858T>C (p.Pro2286=) n.7227T>C c.7131T>C (p.Pro2377=) | ClinVar dbSNP |
| 13 | g.32355080T>G | CA483439763 | BRCA2 | c.7227T>G (p.Pro2409=) c.6858T>G (p.Pro2286=) n.7227T>G c.7131T>G (p.Pro2377=) | |
| 13 | g.32355080T= | CA2082809923 | BRCA2 | c.7227T= (p.Pro2409=) c.6858T= (p.Pro2286=) n.7227T= c.7131T= (p.Pro2377=) | |
| 13 | g.32355083del | CA658656409 | BRCA2 | c.7230del (p.Phe2410LeufsTer?) c.6861del (p.Phe2287LeufsTer?) n.7230del c.7134del (p.Phe2378LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355081T>A | CA387740225 | BRCA2 | c.7228T>A (p.Phe2410Ile) c.6859T>A (p.Phe2287Ile) n.7228T>A c.7132T>A (p.Phe2378Ile) | dbSNP |
| 13 | g.32355081T>C | CA387740229 | BRCA2 | c.7228T>C (p.Phe2410Leu) c.6859T>C (p.Phe2287Leu) n.7228T>C c.7132T>C (p.Phe2378Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355081T>G | CA387740234 | BRCA2 | c.7228T>G (p.Phe2410Val) c.6859T>G (p.Phe2287Val) n.7228T>G c.7132T>G (p.Phe2378Val) | |
| 13 | g.32355081T= | CA2082809927 | BRCA2 | c.7228T= (p.Phe2410=) c.6859T= (p.Phe2287=) n.7228T= c.7132T= (p.Phe2378=) | |
| 13 | g.32355082T>A | CA387740241 | BRCA2 | c.7229T>A (p.Phe2410Tyr) c.6860T>A (p.Phe2287Tyr) n.7229T>A c.7133T>A (p.Phe2378Tyr) | dbSNP |
| 13 | g.32355082T>C | CA387740242 | BRCA2 | c.7229T>C (p.Phe2410Ser) c.6860T>C (p.Phe2287Ser) n.7229T>C c.7133T>C (p.Phe2378Ser) | dbSNP |
| 13 | g.32355082T>G | CA387740238 | BRCA2 | c.7229T>G (p.Phe2410Cys) c.6860T>G (p.Phe2287Cys) n.7229T>G c.7133T>G (p.Phe2378Cys) | |
| 13 | g.32355083T>A | CA387740246 | BRCA2 | c.7230T>A (p.Phe2410Leu) c.6861T>A (p.Phe2287Leu) n.7230T>A c.7134T>A (p.Phe2378Leu) | |
| 13 | g.32355083T>C | CA483439767 | BRCA2 | c.7230T>C (p.Phe2410=) c.6861T>C (p.Phe2287=) n.7230T>C c.7134T>C (p.Phe2378=) | |
| 13 | g.32355083T>G | CA387740253 | BRCA2 | c.7230T>G (p.Phe2410Leu) c.6861T>G (p.Phe2287Leu) n.7230T>G c.7134T>G (p.Phe2378Leu) | |
| 13 | g.32355083_32355084delinsTA | CA2082809928 | BRCA2 | c.7230_7231delinsTA (p.Phe2410=) c.6861_6862delinsTA (p.Phe2287=) n.7230_7231delinsTA c.7134_7135delinsTA (p.Phe2378=) | |
| 13 | g.32355084A= | CA2082809940 | BRCA2 | c.7231A= (p.Lys2411=) c.6862A= (p.Lys2288=) n.7231A= c.7135A= (p.Lys2379=) | |
| 13 | g.32355084A>C | CA387740255 | BRCA2 | c.7231A>C (p.Lys2411Gln) c.6862A>C (p.Lys2288Gln) n.7231A>C c.7135A>C (p.Lys2379Gln) | |
| 13 | g.32355084A>G | CA6941072 | BRCA2 | c.7231A>G (p.Lys2411Glu) c.6862A>G (p.Lys2288Glu) n.7231A>G c.7135A>G (p.Lys2379Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355084A>T | CA387740272 | BRCA2 | c.7231A>T (p.Lys2411Ter) c.6862A>T (p.Lys2288Ter) n.7231A>T c.7135A>T (p.Lys2379Ter) | dbSNP |
| 13 | g.32355087del | CA645372931 | BRCA2 | c.7234del (p.Thr2412LeufsTer?) c.6865del (p.Thr2289LeufsTer?) n.7234del c.7138del (p.Thr2380LeufsTer?) | ClinVar dbSNP |
| 13 | g.32355085A= | CA2082809950 | BRCA2 | c.7232A= (p.Lys2411=) c.6863A= (p.Lys2288=) n.7232A= c.7136A= (p.Lys2379=) | |
| 13 | g.32355085A>C | CA024979 | BRCA2 | c.7232A>C (p.Lys2411Thr) c.6863A>C (p.Lys2288Thr) n.7232A>C c.7136A>C (p.Lys2379Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355085A>G | CA387740275 | BRCA2 | c.7232A>G (p.Lys2411Arg) c.6863A>G (p.Lys2288Arg) n.7232A>G c.7136A>G (p.Lys2379Arg) | dbSNP |
| 13 | g.32355085A>T | CA387740276 | BRCA2 | c.7232A>T (p.Lys2411Ile) c.6863A>T (p.Lys2288Ile) n.7232A>T c.7136A>T (p.Lys2379Ile) | dbSNP |
| 13 | g.32355086A= | CA2082809954 | BRCA2 | c.7233A= (p.Lys2411=) c.6864A= (p.Lys2288=) n.7233A= c.7137A= (p.Lys2379=) | |
| 13 | g.32355086A>C | CA387740279 | BRCA2 | c.7233A>C (p.Lys2411Asn) c.6864A>C (p.Lys2288Asn) n.7233A>C c.7137A>C (p.Lys2379Asn) | gnomAD v4 |
| 13 | g.32355086A>G | CA483439769 | BRCA2 | c.7233A>G (p.Lys2411=) c.6864A>G (p.Lys2288=) n.7233A>G c.7137A>G (p.Lys2379=) | |
| 13 | g.32355086A>T | CA387740295 | BRCA2 | c.7233A>T (p.Lys2411Asn) c.6864A>T (p.Lys2288Asn) n.7233A>T c.7137A>T (p.Lys2379Asn) | dbSNP |
| 13 | g.32355086_32355087insG | CA658823700 | BRCA2 | c.7233_7234insG (p.Thr2412AspfsTer2) c.6864_6865insG (p.Thr2289AspfsTer2) n.7233_7234insG c.7137_7138insG (p.Thr2380AspfsTer2) | ClinVar dbSNP |
| 13 | g.32355087A= | CA2082809966 | BRCA2 | c.7234A= (p.Thr2412=) c.6865A= (p.Thr2289=) n.7234A= c.7138A= (p.Thr2380=) | |
| 13 | g.32355087A>C | CA387740299 | BRCA2 | c.7234A>C (p.Thr2412Pro) c.6865A>C (p.Thr2289Pro) n.7234A>C c.7138A>C (p.Thr2380Pro) | ClinVar dbSNP |
| 13 | g.32355087A>G | CA10579729 | BRCA2 | c.7234A>G (p.Thr2412Ala) c.6865A>G (p.Thr2289Ala) n.7234A>G c.7138A>G (p.Thr2380Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355087A>T | CA387740309 | BRCA2 | c.7234A>T (p.Thr2412Ser) c.6865A>T (p.Thr2289Ser) n.7234A>T c.7138A>T (p.Thr2380Ser) | dbSNP |
| 13 | g.32355087_32355088insG | CA024981 | BRCA2 | c.7234_7235insG (p.Thr2412SerfsTer2) c.6865_6866insG (p.Thr2289SerfsTer2) n.7234_7235insG c.7138_7139insG (p.Thr2380SerfsTer2) | ClinVar dbSNP |
| 13 | g.32355088C>A | CA387740313 | BRCA2 | c.7235C>A (p.Thr2412Asn) c.6866C>A (p.Thr2289Asn) n.7235C>A c.7139C>A (p.Thr2380Asn) | dbSNP gnomAD v4 |
| 13 | g.32355088C= | CA2082809992 | BRCA2 | c.7235C= (p.Thr2412=) c.6866C= (p.Thr2289=) n.7235C= c.7139C= (p.Thr2380=) | |
| 13 | g.32355088C>G | CA387740310 | BRCA2 | c.7235C>G (p.Thr2412Ser) c.6866C>G (p.Thr2289Ser) n.7235C>G c.7139C>G (p.Thr2380Ser) | ClinVar gnomAD v4 |
| 13 | g.32355088C>T | CA024985 | BRCA2 | c.7235C>T (p.Thr2412Ile) c.6866C>T (p.Thr2289Ile) n.7235C>T c.7139C>T (p.Thr2380Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355088_32355092delinsCTAAA | CA2082810003 | BRCA2 | c.7235_7239delinsCTAAA (p.Thr2412=) c.6866_6870delinsCTAAA (p.Thr2289=) n.7235_7239delinsCTAAA c.7139_7143delinsCTAAA (p.Thr2380=) | |
| 13 | g.32355088_32355089insG | CA024983 | BRCA2 | c.7235_7236insG (p.Lys2413Ter) c.6866_6867insG (p.Lys2290Ter) n.7235_7236insG c.7139_7140insG (p.Lys2381Ter) | ClinVar dbSNP |