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.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.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) | |
| 7 | g.150948996_150949006delinsACTTGCCAGGC | CA1752432047 | KCNH2 | n.3275_3285delinsGCCTGGCAAGT c.2442_2452delinsGCCTGGCAAGT (p.Arg814=) c.1422_1432delinsGCCTGGCAAGT (p.Arg474=) c.2142_2152delinsGCCTGGCAAGT (p.Arg714=) c.2292_2302delinsGCCTGGCAAGT (p.Arg764=) c.2265_2275delinsGCCTGGCAAGT (p.Arg755=) | |
| 7 | g.150948997C>A | CA369855243 | KCNH2 | n.3284G>T c.2451G>T (p.Lys817Asn) c.1431G>T (p.Lys477Asn) c.2151G>T (p.Lys717Asn) c.2301G>T (p.Lys767Asn) c.2274G>T (p.Lys758Asn) | |
| 7 | g.150948997C>G | CA369855245 | KCNH2 | n.3284G>C c.2451G>C (p.Lys817Asn) c.1431G>C (p.Lys477Asn) c.2151G>C (p.Lys717Asn) c.2301G>C (p.Lys767Asn) c.2274G>C (p.Lys758Asn) | |
| 7 | g.150948997C>T | CA458645192 | KCNH2 | n.3284G>A c.2451G>A (p.Lys817=) c.1431G>A (p.Lys477=) c.2151G>A (p.Lys717=) c.2301G>A (p.Lys767=) c.2274G>A (p.Lys758=) | |
| 7 | g.150949002_150949011del | CA658797040 | KCNH2 | n.3275_3284del c.2442_2451del (p.Arg814SerfsTer?) c.1422_1431del (p.Arg474SerfsTer?) c.2142_2151del (p.Arg714SerfsTer?) c.2292_2301del (p.Arg764SerfsTer?) c.2265_2274del (p.Arg755SerfsTer?) | ClinVar dbSNP |
| 7 | g.150948998T>A | CA369855251 | KCNH2 | n.3283A>T c.2450A>T (p.Lys817Met) c.1430A>T (p.Lys477Met) c.2150A>T (p.Lys717Met) c.2300A>T (p.Lys767Met) c.2273A>T (p.Lys758Met) | |
| 7 | g.150948998T>C | CA369855247 | KCNH2 | n.3283A>G c.2450A>G (p.Lys817Arg) c.1430A>G (p.Lys477Arg) c.2150A>G (p.Lys717Arg) c.2300A>G (p.Lys767Arg) c.2273A>G (p.Lys758Arg) | COSMIC COSMIC |
| 7 | g.150948998T>G | CA369855249 | KCNH2 | n.3283A>C c.2450A>C (p.Lys817Thr) c.1430A>C (p.Lys477Thr) c.2150A>C (p.Lys717Thr) c.2300A>C (p.Lys767Thr) c.2273A>C (p.Lys758Thr) | |
| 7 | g.150948999T>A | CA369855253 | KCNH2 | n.3282A>T c.2449A>T (p.Lys817Ter) c.1429A>T (p.Lys477Ter) c.2149A>T (p.Lys717Ter) c.2299A>T (p.Lys767Ter) c.2272A>T (p.Lys758Ter) | |
| 7 | g.150948999T>C | CA369855254 | KCNH2 | n.3282A>G c.2449A>G (p.Lys817Glu) c.1429A>G (p.Lys477Glu) c.2149A>G (p.Lys717Glu) c.2299A>G (p.Lys767Glu) c.2272A>G (p.Lys758Glu) | |
| 7 | g.150948999T>G | CA369855255 | KCNH2 | n.3282A>C c.2449A>C (p.Lys817Gln) c.1429A>C (p.Lys477Gln) c.2149A>C (p.Lys717Gln) c.2299A>C (p.Lys767Gln) c.2272A>C (p.Lys758Gln) | |
| 7 | g.150949000G>A | CA458645193 | KCNH2 | n.3281C>T c.2448C>T (p.Gly816=) c.1428C>T (p.Gly476=) c.2148C>T (p.Gly716=) c.2298C>T (p.Gly766=) c.2271C>T (p.Gly757=) | |
| 7 | g.150949000G>C | CA169074886 | KCNH2 | n.3281C>G c.2448C>G (p.Gly816=) c.1428C>G (p.Gly476=) c.2148C>G (p.Gly716=) c.2298C>G (p.Gly766=) c.2271C>G (p.Gly757=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949000G= | CA1752432052 | KCNH2 | n.3281C= c.2448C= (p.Gly816=) c.1428C= (p.Gly476=) c.2148C= (p.Gly716=) c.2298C= (p.Gly766=) c.2271C= (p.Gly757=) |