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 |
|---|---|---|---|---|---|
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150948964_150949161del | CA2573141856 | KCNH2 | n.3232-108_3321del c.2399-108_2488del c.1379-108_1468del c.2099-108_2188del c.2249-108_2338del c.2222-108_2311del | ClinVar dbSNP |
| 7 | g.150948983_150948986delinsCCCTC | CA2695208828 | KCNH2 | n.3295_3298delinsGAGGG c.2462_2465delinsGAGGG (p.Asp821GlyfsTer9) c.1442_1445delinsGAGGG (p.Asp481GlyfsTer9) c.2162_2165delinsGAGGG (p.Asp721GlyfsTer9) c.2312_2315delinsGAGGG (p.Asp771GlyfsTer9) c.2285_2288delinsGAGGG (p.Asp762GlyfsTer9) | |
| 7 | g.150948985A= | CA1752432021 | KCNH2 | n.3296T= c.2463T= (p.Asp821=) c.1443T= (p.Asp481=) c.2163T= (p.Asp721=) c.2313T= (p.Asp771=) c.2286T= (p.Asp762=) | |
| 7 | g.150948985A>C | CA369855187 | KCNH2 | n.3296T>G c.2463T>G (p.Asp821Glu) c.1443T>G (p.Asp481Glu) c.2163T>G (p.Asp721Glu) c.2313T>G (p.Asp771Glu) c.2286T>G (p.Asp762Glu) | |
| 7 | g.150948985A>G | CA458645188 | KCNH2 | n.3296T>C c.2463T>C (p.Asp821=) c.1443T>C (p.Asp481=) c.2163T>C (p.Asp721=) c.2313T>C (p.Asp771=) c.2286T>C (p.Asp762=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948985A>T | CA369855189 | KCNH2 | n.3296T>A c.2463T>A (p.Asp821Glu) c.1443T>A (p.Asp481Glu) c.2163T>A (p.Asp721Glu) c.2313T>A (p.Asp771Glu) c.2286T>A (p.Asp762Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948986T>A | CA369855191 | KCNH2 | n.3295A>T c.2462A>T (p.Asp821Val) c.1442A>T (p.Asp481Val) c.2162A>T (p.Asp721Val) c.2312A>T (p.Asp771Val) c.2285A>T (p.Asp762Val) | ClinVar dbSNP |
| 7 | g.150948986T>C | CA369855193 | KCNH2 | n.3295A>G c.2462A>G (p.Asp821Gly) c.1442A>G (p.Asp481Gly) c.2162A>G (p.Asp721Gly) c.2312A>G (p.Asp771Gly) c.2285A>G (p.Asp762Gly) | |
| 7 | g.150948986T>G | CA369855192 | KCNH2 | n.3295A>C c.2462A>C (p.Asp821Ala) c.1442A>C (p.Asp481Ala) c.2162A>C (p.Asp721Ala) c.2312A>C (p.Asp771Ala) c.2285A>C (p.Asp762Ala) | |
| 7 | g.150948987C>A | CA369855196 | KCNH2 | n.3294G>T c.2461G>T (p.Asp821Tyr) c.1441G>T (p.Asp481Tyr) c.2161G>T (p.Asp721Tyr) c.2311G>T (p.Asp771Tyr) c.2284G>T (p.Asp762Tyr) | |
| 7 | g.150948987C>G | CA369855198 | KCNH2 | n.3294G>C c.2461G>C (p.Asp821His) c.1441G>C (p.Asp481His) c.2161G>C (p.Asp721His) c.2311G>C (p.Asp771His) c.2284G>C (p.Asp762His) | |
| 7 | g.150948987C>T | CA369855199 | KCNH2 | n.3294G>A c.2461G>A (p.Asp821Asn) c.1441G>A (p.Asp481Asn) c.2161G>A (p.Asp721Asn) c.2311G>A (p.Asp771Asn) c.2284G>A (p.Asp762Asn) | |
| 7 | g.150948988_150948990del | CA2561770020 | KCNH2 | n.3292_3294del c.2459_2461del (p.Gly820del) c.1439_1441del (p.Gly480del) c.2159_2161del (p.Gly720del) c.2309_2311del (p.Gly770del) c.2282_2284del (p.Gly761del) | |
| 7 | g.150948988C>A | CA458645189 | KCNH2 | n.3293G>T c.2460G>T (p.Gly820=) c.1440G>T (p.Gly480=) c.2160G>T (p.Gly720=) c.2310G>T (p.Gly770=) c.2283G>T (p.Gly761=) | |
| 7 | g.150948988C>G | CA458645190 | KCNH2 | n.3293G>C c.2460G>C (p.Gly820=) c.1440G>C (p.Gly480=) c.2160G>C (p.Gly720=) c.2310G>C (p.Gly770=) c.2283G>C (p.Gly761=) | gnomAD v4 |
| 7 | g.150948988C>T | CA458645191 | KCNH2 | n.3293G>A c.2460G>A (p.Gly820=) c.1440G>A (p.Gly480=) c.2160G>A (p.Gly720=) c.2310G>A (p.Gly770=) c.2283G>A (p.Gly761=) | dbSNP |
| 7 | g.150948989C>A | CA369855201 | KCNH2 | n.3292G>T c.2459G>T (p.Gly820Val) c.1439G>T (p.Gly480Val) c.2159G>T (p.Gly720Val) c.2309G>T (p.Gly770Val) c.2282G>T (p.Gly761Val) | |
| 7 | g.150948989C>G | CA369855203 | KCNH2 | n.3292G>C c.2459G>C (p.Gly820Ala) c.1439G>C (p.Gly480Ala) c.2159G>C (p.Gly720Ala) c.2309G>C (p.Gly770Ala) c.2282G>C (p.Gly761Ala) | |
| 7 | g.150948989C>T | CA369855205 | KCNH2 | n.3292G>A c.2459G>A (p.Gly820Glu) c.1439G>A (p.Gly480Glu) c.2159G>A (p.Gly720Glu) c.2309G>A (p.Gly770Glu) c.2282G>A (p.Gly761Glu) | ClinVar gnomAD v4 |
| 7 | g.150948989_150948990insTAAAAAA | CA2567851703 | KCNH2 | n.3291_3292insTTTTTTA c.2458_2459insTTTTTTA (p.Gly820ValfsTer3) c.1438_1439insTTTTTTA (p.Gly480ValfsTer3) c.2158_2159insTTTTTTA (p.Gly720ValfsTer3) c.2308_2309insTTTTTTA (p.Gly770ValfsTer3) c.2281_2282insTTTTTTA (p.Gly761ValfsTer3) | |
| 7 | g.150948989_150948990insAGGCCCTTGCATACA | CA2573141857 | KCNH2 | n.3291_3292insTGTATGCAAGGGCCT c.2458_2459insTGTATGCAAGGGCCT (p.Gly820delinsValTyrAlaArgAlaTrp) c.1438_1439insTGTATGCAAGGGCCT (p.Gly480delinsValTyrAlaArgAlaTrp) c.2158_2159insTGTATGCAAGGGCCT (p.Gly720delinsValTyrAlaArgAlaTrp) c.2308_2309insTGTATGCAAGGGCCT (p.Gly770delinsValTyrAlaArgAlaTrp) c.2281_2282insTGTATGCAAGGGCCT (p.Gly761delinsValTyrAlaArgAlaTrp) | ClinVar dbSNP |
| 7 | g.150948990C>A | CA369855207 | KCNH2 | n.3291G>T c.2458G>T (p.Gly820Trp) c.1438G>T (p.Gly480Trp) c.2158G>T (p.Gly720Trp) c.2308G>T (p.Gly770Trp) c.2281G>T (p.Gly761Trp) | |
| 7 | g.150948990C= | CA1752432024 | KCNH2 | n.3291G= c.2458G= (p.Gly820=) c.1438G= (p.Gly480=) c.2158G= (p.Gly720=) c.2308G= (p.Gly770=) c.2281G= (p.Gly761=) | |
| 7 | g.150948990C>G | CA369855209 | KCNH2 | n.3291G>C c.2458G>C (p.Gly820Arg) c.1438G>C (p.Gly480Arg) c.2158G>C (p.Gly720Arg) c.2308G>C (p.Gly770Arg) c.2281G>C (p.Gly761Arg) | ClinVar |
| 7 | g.150948990C>T | CA006787 | KCNH2 | n.3291G>A c.2458G>A (p.Gly820Arg) c.1438G>A (p.Gly480Arg) c.2158G>A (p.Gly720Arg) c.2308G>A (p.Gly770Arg) c.2281G>A (p.Gly761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.150948991G>A | CA032843 | KCNH2 | n.3290C>T c.2457C>T (p.Asn819=) c.1437C>T (p.Asn479=) c.2157C>T (p.Asn719=) c.2307C>T (p.Asn769=) c.2280C>T (p.Asn760=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948991G>C | CA169074833 | KCNH2 | n.3290C>G c.2457C>G (p.Asn819Lys) c.1437C>G (p.Asn479Lys) c.2157C>G (p.Asn719Lys) c.2307C>G (p.Asn769Lys) c.2280C>G (p.Asn760Lys) | ClinVar dbSNP |
| 7 | g.150948991G= | CA1752432026 | KCNH2 | n.3290C= c.2457C= (p.Asn819=) c.1437C= (p.Asn479=) c.2157C= (p.Asn719=) c.2307C= (p.Asn769=) c.2280C= (p.Asn760=) | |
| 7 | g.150948991G>T | CA369855213 | KCNH2 | n.3290C>A c.2457C>A (p.Asn819Lys) c.1437C>A (p.Asn479Lys) c.2157C>A (p.Asn719Lys) c.2307C>A (p.Asn769Lys) c.2280C>A (p.Asn760Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150948991_150948992delinsGT | CA1752432030 | KCNH2 | n.3289_3290delinsAC c.2456_2457delinsAC (p.Asn819=) c.1436_1437delinsAC (p.Asn479=) c.2156_2157delinsAC (p.Asn719=) c.2306_2307delinsAC (p.Asn769=) c.2279_2280delinsAC (p.Asn760=) | |
| 7 | g.150948992T>A | CA369855219 | KCNH2 | n.3289A>T c.2456A>T (p.Asn819Ile) c.1436A>T (p.Asn479Ile) c.2156A>T (p.Asn719Ile) c.2306A>T (p.Asn769Ile) c.2279A>T (p.Asn760Ile) | |
| 7 | g.150948992T>C | CA369855221 | KCNH2 | n.3289A>G c.2456A>G (p.Asn819Ser) c.1436A>G (p.Asn479Ser) c.2156A>G (p.Asn719Ser) c.2306A>G (p.Asn769Ser) c.2279A>G (p.Asn760Ser) | |
| 7 | g.150948992T>G | CA369855217 | KCNH2 | n.3289A>C c.2456A>C (p.Asn819Thr) c.1436A>C (p.Asn479Thr) c.2156A>C (p.Asn719Thr) c.2306A>C (p.Asn769Thr) c.2279A>C (p.Asn760Thr) | |
| 7 | g.150948993del | CA006779 | KCNH2 | n.3289del c.2456del (p.Asn819ThrfsTer?) c.1436del (p.Asn479ThrfsTer?) c.2156del (p.Asn719ThrfsTer?) c.2306del (p.Asn769ThrfsTer?) c.2279del (p.Asn760ThrfsTer?) | ClinVar dbSNP |
| 7 | g.150948993T>A | CA369855223 | KCNH2 | n.3288A>T c.2455A>T (p.Asn819Tyr) c.1435A>T (p.Asn479Tyr) c.2155A>T (p.Asn719Tyr) c.2305A>T (p.Asn769Tyr) c.2278A>T (p.Asn760Tyr) | |
| 7 | g.150948993T>C | CA369855225 | KCNH2 | n.3288A>G c.2455A>G (p.Asn819Asp) c.1435A>G (p.Asn479Asp) c.2155A>G (p.Asn719Asp) c.2305A>G (p.Asn769Asp) c.2278A>G (p.Asn760Asp) | |
| 7 | g.150948993T>G | CA369855227 | KCNH2 | n.3288A>C c.2455A>C (p.Asn819His) c.1435A>C (p.Asn479His) c.2155A>C (p.Asn719His) c.2305A>C (p.Asn769His) c.2278A>C (p.Asn760His) | |
| 7 | g.150948994C>A | CA169074843 | KCNH2 | n.3287G>T c.2454G>T (p.Ser818=) c.1434G>T (p.Ser478=) c.2154G>T (p.Ser718=) c.2304G>T (p.Ser768=) c.2277G>T (p.Ser759=) | dbSNP |
| 7 | g.150948994C= | CA1752432035 | KCNH2 | n.3287G= c.2454G= (p.Ser818=) c.1434G= (p.Ser478=) c.2154G= (p.Ser718=) c.2304G= (p.Ser768=) c.2277G= (p.Ser759=) | |
| 7 | g.150948994C>G | CA032829 | KCNH2 | n.3287G>C c.2454G>C (p.Ser818=) c.1434G>C (p.Ser478=) c.2154G>C (p.Ser718=) c.2304G>C (p.Ser768=) c.2277G>C (p.Ser759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948994C>T | CA006771 | KCNH2 | n.3287G>A c.2454G>A (p.Ser818=) c.1434G>A (p.Ser478=) c.2154G>A (p.Ser718=) c.2304G>A (p.Ser768=) c.2277G>A (p.Ser759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948995G>A | CA006763 | KCNH2 | n.3286C>T c.2453C>T (p.Ser818Leu) c.1433C>T (p.Ser478Leu) c.2153C>T (p.Ser718Leu) c.2303C>T (p.Ser768Leu) c.2276C>T (p.Ser759Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150948995G>C | CA369855233 | KCNH2 | n.3286C>G c.2453C>G (p.Ser818Trp) c.1433C>G (p.Ser478Trp) c.2153C>G (p.Ser718Trp) c.2303C>G (p.Ser768Trp) c.2276C>G (p.Ser759Trp) | ClinVar COSMIC |
| 7 | g.150948995G= | CA1752432041 | KCNH2 | n.3286C= c.2453C= (p.Ser818=) c.1433C= (p.Ser478=) c.2153C= (p.Ser718=) c.2303C= (p.Ser768=) c.2276C= (p.Ser759=) | |
| 7 | g.150948995G>T | CA369855235 | KCNH2 | n.3286C>A c.2453C>A (p.Ser818Ter) c.1433C>A (p.Ser478Ter) c.2153C>A (p.Ser718Ter) c.2303C>A (p.Ser768Ter) c.2276C>A (p.Ser759Ter) | |
| 7 | g.150948996A= | CA1752432044 | KCNH2 | n.3285T= c.2452T= (p.Ser818=) c.1432T= (p.Ser478=) c.2152T= (p.Ser718=) c.2302T= (p.Ser768=) c.2275T= (p.Ser759=) | |
| 7 | g.150948996A>C | CA369855238 | KCNH2 | n.3285T>G c.2452T>G (p.Ser818Ala) c.1432T>G (p.Ser478Ala) c.2152T>G (p.Ser718Ala) c.2302T>G (p.Ser768Ala) c.2275T>G (p.Ser759Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948996A>G | CA006757 | KCNH2 | n.3285T>C c.2452T>C (p.Ser818Pro) c.1432T>C (p.Ser478Pro) c.2152T>C (p.Ser718Pro) c.2302T>C (p.Ser768Pro) c.2275T>C (p.Ser759Pro) | ClinVar dbSNP |
| 7 | g.150948996A>T | CA369855240 | KCNH2 | n.3285T>A c.2452T>A (p.Ser818Thr) c.1432T>A (p.Ser478Thr) c.2152T>A (p.Ser718Thr) c.2302T>A (p.Ser768Thr) c.2275T>A (p.Ser759Thr) |