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 |
|---|---|---|---|---|---|
| 20 | g.63442411C>A | CA409653341 | KCNQ2 | c.811G>T (p.Gly271Cys) n.549G>T c.292G>T (p.Gly98Cys) c.469G>T (p.Gly157Cys) n.937G>T c.176G>T c.232G>T (p.Gly78Cys) n.636G>T c.690+2248G>T (n.690+2248G>T) c.742G>T (p.Gly248Cys) | |
| 20 | g.63442411C= | CA2374793473 | KCNQ2 | c.811G= (p.Gly271=) n.549G= c.292G= (p.Gly98=) c.469G= (p.Gly157=) n.937G= c.176G= c.232G= (p.Gly78=) n.636G= c.690+2248G= (n.690+2248G=) c.742G= (p.Gly248=) | |
| 20 | g.63442411C>G | CA16621790 | KCNQ2 | c.811G>C (p.Gly271Arg) n.549G>C c.292G>C (p.Gly98Arg) c.469G>C (p.Gly157Arg) n.937G>C c.176G>C c.232G>C (p.Gly78Arg) n.636G>C c.690+2248G>C (n.690+2248G>C) c.742G>C (p.Gly248Arg) | ClinVar dbSNP |
| 20 | g.63442411C>T | CA409653339 | KCNQ2 | c.811G>A (p.Gly271Ser) n.549G>A c.292G>A (p.Gly98Ser) c.469G>A (p.Gly157Ser) n.937G>A c.176G>A c.232G>A (p.Gly78Ser) n.636G>A c.690+2248G>A (n.690+2248G>A) c.742G>A (p.Gly248Ser) | ClinVar dbSNP |
| 20 | g.63442412C>A | CA409653342 | KCNQ2 | c.810G>T (p.Trp270Cys) n.548G>T c.291G>T (p.Trp97Cys) c.468G>T (p.Trp156Cys) n.936G>T c.175G>T c.231G>T (p.Trp77Cys) n.635G>T c.690+2247G>T (n.690+2247G>T) c.741G>T (p.Trp247Cys) | ClinVar dbSNP |
| 20 | g.63442412C= | CA2374793474 | KCNQ2 | c.810G= (p.Trp270=) n.548G= c.291G= (p.Trp97=) c.468G= (p.Trp156=) n.936G= c.175G= c.231G= (p.Trp77=) n.635G= c.690+2247G= (n.690+2247G=) c.741G= (p.Trp247=) | |
| 20 | g.63442412C>G | CA409653344 | KCNQ2 | c.810G>C (p.Trp270Cys) n.548G>C c.291G>C (p.Trp97Cys) c.468G>C (p.Trp156Cys) n.936G>C c.175G>C c.231G>C (p.Trp77Cys) n.635G>C c.690+2247G>C (n.690+2247G>C) c.741G>C (p.Trp247Cys) | |
| 20 | g.63442412C>T | CA409653345 | KCNQ2 | c.810G>A (p.Trp270Ter) n.548G>A c.291G>A (p.Trp97Ter) c.468G>A (p.Trp156Ter) n.936G>A c.175G>A c.231G>A (p.Trp77Ter) n.635G>A c.690+2247G>A (n.690+2247G>A) c.741G>A (p.Trp247Ter) | |
| 20 | g.63442413C>A | CA409653347 | KCNQ2 | c.809G>T (p.Trp270Leu) n.547G>T c.290G>T (p.Trp97Leu) c.467G>T (p.Trp156Leu) n.935G>T c.174G>T c.230G>T (p.Trp77Leu) n.634G>T c.690+2246G>T (n.690+2246G>T) c.740G>T (p.Trp247Leu) | |
| 20 | g.63442413C= | CA2374793475 | KCNQ2 | c.809G= (p.Trp270=) n.547G= c.290G= (p.Trp97=) c.467G= (p.Trp156=) n.935G= c.174G= c.230G= (p.Trp77=) n.634G= c.690+2246G= (n.690+2246G=) c.740G= (p.Trp247=) | |
| 20 | g.63442413C>G | CA409653349 | KCNQ2 | c.809G>C (p.Trp270Ser) n.547G>C c.290G>C (p.Trp97Ser) c.467G>C (p.Trp156Ser) n.935G>C c.174G>C c.230G>C (p.Trp77Ser) n.634G>C c.690+2246G>C (n.690+2246G>C) c.740G>C (p.Trp247Ser) | |
| 20 | g.63442413C>T | CA315398 | KCNQ2 | c.809G>A (p.Trp270Ter) n.547G>A c.290G>A (p.Trp97Ter) c.467G>A (p.Trp156Ter) n.935G>A c.174G>A c.230G>A (p.Trp77Ter) n.634G>A c.690+2246G>A (n.690+2246G>A) c.740G>A (p.Trp247Ter) | ClinVar dbSNP |
| 20 | g.63442414A>C | CA409653350 | KCNQ2 | c.808T>G (p.Trp270Gly) n.546T>G c.289T>G (p.Trp97Gly) c.466T>G (p.Trp156Gly) n.934T>G c.173T>G c.229T>G (p.Trp77Gly) n.633T>G c.690+2245T>G (n.690+2245T>G) c.739T>G (p.Trp247Gly) | |
| 20 | g.63442414A>G | CA409653353 | KCNQ2 | c.808T>C (p.Trp270Arg) n.546T>C c.289T>C (p.Trp97Arg) c.466T>C (p.Trp156Arg) n.934T>C c.173T>C c.229T>C (p.Trp77Arg) n.633T>C c.690+2245T>C (n.690+2245T>C) c.739T>C (p.Trp247Arg) | |
| 20 | g.63442414A>T | CA409653352 | KCNQ2 | c.808T>A (p.Trp270Arg) n.546T>A c.289T>A (p.Trp97Arg) c.466T>A (p.Trp156Arg) n.934T>A c.173T>A c.229T>A (p.Trp77Arg) n.633T>A c.690+2245T>A (n.690+2245T>A) c.739T>A (p.Trp247Arg) | |
| 20 | g.63442415C>A | CA409653355 | KCNQ2 | c.807G>T (p.Trp269Cys) n.545G>T c.288G>T (p.Trp96Cys) c.465G>T (p.Trp155Cys) n.933G>T c.172G>T c.228G>T (p.Trp76Cys) n.632G>T c.690+2244G>T (n.690+2244G>T) c.738G>T (p.Trp246Cys) | ClinVar dbSNP |
| 20 | g.63442415C= | CA2374793476 | KCNQ2 | c.807G= (p.Trp269=) n.545G= c.288G= (p.Trp96=) c.465G= (p.Trp155=) n.933G= c.172G= c.228G= (p.Trp76=) n.632G= c.690+2244G= (n.690+2244G=) c.738G= (p.Trp246=) | |
| 20 | g.63442415C>G | CA409653357 | KCNQ2 | c.807G>C (p.Trp269Cys) n.545G>C c.288G>C (p.Trp96Cys) c.465G>C (p.Trp155Cys) n.933G>C c.172G>C c.228G>C (p.Trp76Cys) n.632G>C c.690+2244G>C (n.690+2244G>C) c.738G>C (p.Trp246Cys) | |
| 20 | g.63442415C>T | CA315395 | KCNQ2 | c.807G>A (p.Trp269Ter) n.545G>A c.288G>A (p.Trp96Ter) c.465G>A (p.Trp155Ter) n.933G>A c.172G>A c.228G>A (p.Trp76Ter) n.632G>A c.690+2244G>A (n.690+2244G>A) c.738G>A (p.Trp246Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63442416C>A | CA315392 | KCNQ2 | c.806G>T (p.Trp269Leu) n.544G>T c.287G>T (p.Trp96Leu) c.464G>T (p.Trp155Leu) n.932G>T c.171G>T c.227G>T (p.Trp76Leu) n.631G>T c.690+2243G>T (n.690+2243G>T) c.737G>T (p.Trp246Leu) | ClinVar dbSNP |
| 20 | g.63442416C= | CA2374793477 | KCNQ2 | c.806G= (p.Trp269=) n.544G= c.287G= (p.Trp96=) c.464G= (p.Trp155=) n.932G= c.171G= c.227G= (p.Trp76=) n.631G= c.690+2243G= (n.690+2243G=) c.737G= (p.Trp246=) | |
| 20 | g.63442416C>G | CA409653359 | KCNQ2 | c.806G>C (p.Trp269Ser) n.544G>C c.287G>C (p.Trp96Ser) c.464G>C (p.Trp155Ser) n.932G>C c.171G>C c.227G>C (p.Trp76Ser) n.631G>C c.690+2243G>C (n.690+2243G>C) c.737G>C (p.Trp246Ser) | ClinVar dbSNP |
| 20 | g.63442416C>T | CA409653360 | KCNQ2 | c.806G>A (p.Trp269Ter) n.544G>A c.287G>A (p.Trp96Ter) c.464G>A (p.Trp155Ter) n.932G>A c.171G>A c.227G>A (p.Trp76Ter) n.631G>A c.690+2243G>A (n.690+2243G>A) c.737G>A (p.Trp246Ter) | dbSNP |
| 20 | g.63442417A>C | CA409653361 | KCNQ2 | c.805T>G (p.Trp269Gly) n.543T>G c.286T>G (p.Trp96Gly) c.463T>G (p.Trp155Gly) n.931T>G c.170T>G c.226T>G (p.Trp76Gly) n.630T>G c.690+2242T>G (n.690+2242T>G) c.736T>G (p.Trp246Gly) | |
| 20 | g.63442417A>G | CA409653362 | KCNQ2 | c.805T>C (p.Trp269Arg) n.543T>C c.286T>C (p.Trp96Arg) c.463T>C (p.Trp155Arg) n.931T>C c.170T>C c.226T>C (p.Trp76Arg) n.630T>C c.690+2242T>C (n.690+2242T>C) c.736T>C (p.Trp246Arg) | |
| 20 | g.63442417A>T | CA409653363 | KCNQ2 | c.805T>A (p.Trp269Arg) n.543T>A c.286T>A (p.Trp96Arg) c.463T>A (p.Trp155Arg) n.931T>A c.170T>A c.226T>A (p.Trp76Arg) n.630T>A c.690+2242T>A (n.690+2242T>A) c.736T>A (p.Trp246Arg) | |
| 20 | g.63442418G>A | CA315289 | KCNQ2 | c.804C>T (p.Leu268=) n.542C>T c.285C>T (p.Leu95=) c.462C>T (p.Leu154=) n.930C>T c.169C>T c.225C>T (p.Leu75=) n.629C>T c.690+2241C>T (n.690+2241C>T) c.735C>T (p.Leu245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63442418G>C | CA511210204 | KCNQ2 | c.804C>G (p.Leu268=) n.542C>G c.285C>G (p.Leu95=) c.462C>G (p.Leu154=) n.930C>G c.169C>G c.225C>G (p.Leu75=) n.629C>G c.690+2241C>G (n.690+2241C>G) c.735C>G (p.Leu245=) | dbSNP |
| 20 | g.63442418G= | CA2374793478 | KCNQ2 | c.804C= (p.Leu268=) n.542C= c.285C= (p.Leu95=) c.462C= (p.Leu154=) n.930C= c.169C= c.225C= (p.Leu75=) n.629C= c.690+2241C= (n.690+2241C=) c.735C= (p.Leu245=) | |
| 20 | g.63442418G>T | CA511210206 | KCNQ2 | c.804C>A (p.Leu268=) n.542C>A c.285C>A (p.Leu95=) c.462C>A (p.Leu154=) n.930C>A c.169C>A c.225C>A (p.Leu75=) n.629C>A c.690+2241C>A (n.690+2241C>A) c.735C>A (p.Leu245=) | dbSNP |
| 20 | g.63442419A= | CA2374793479 | KCNQ2 | c.803T= (p.Leu268=) n.541T= c.284T= (p.Leu95=) c.461T= (p.Leu154=) n.929T= c.168T= c.224T= (p.Leu75=) n.628T= c.690+2240T= (n.690+2240T=) c.734T= (p.Leu245=) | |
| 20 | g.63442419A>C | CA409653368 | KCNQ2 | c.803T>G (p.Leu268Arg) n.541T>G c.284T>G (p.Leu95Arg) c.461T>G (p.Leu154Arg) n.929T>G c.168T>G c.224T>G (p.Leu75Arg) n.628T>G c.690+2240T>G (n.690+2240T>G) c.734T>G (p.Leu245Arg) | |
| 20 | g.63442419A>G | CA347942 | KCNQ2 | c.803T>C (p.Leu268Pro) n.541T>C c.284T>C (p.Leu95Pro) c.461T>C (p.Leu154Pro) n.929T>C c.168T>C c.224T>C (p.Leu75Pro) n.628T>C c.690+2240T>C (n.690+2240T>C) c.734T>C (p.Leu245Pro) | ClinVar dbSNP |
| 20 | g.63442419A>T | CA409653366 | KCNQ2 | c.803T>A (p.Leu268His) n.541T>A c.284T>A (p.Leu95His) c.461T>A (p.Leu154His) n.929T>A c.168T>A c.224T>A (p.Leu75His) n.628T>A c.690+2240T>A (n.690+2240T>A) c.734T>A (p.Leu245His) | |
| 20 | g.63442420G>A | CA10654816 | KCNQ2 | c.802C>T (p.Leu268Phe) n.540C>T c.283C>T (p.Leu95Phe) c.460C>T (p.Leu154Phe) n.928C>T c.167C>T c.223C>T (p.Leu75Phe) n.627C>T c.690+2239C>T (n.690+2239C>T) c.733C>T (p.Leu245Phe) | ClinVar dbSNP |
| 20 | g.63442420G>C | CA409653372 | KCNQ2 | c.802C>G (p.Leu268Val) n.540C>G c.283C>G (p.Leu95Val) c.460C>G (p.Leu154Val) n.928C>G c.167C>G c.223C>G (p.Leu75Val) n.627C>G c.690+2239C>G (n.690+2239C>G) c.733C>G (p.Leu245Val) | |
| 20 | g.63442420G= | CA2374793480 | KCNQ2 | c.802C= (p.Leu268=) n.540C= c.283C= (p.Leu95=) c.460C= (p.Leu154=) n.928C= c.167C= c.223C= (p.Leu75=) n.627C= c.690+2239C= (n.690+2239C=) c.733C= (p.Leu245=) | |
| 20 | g.63442420G>T | CA409653370 | KCNQ2 | c.802C>A (p.Leu268Ile) n.540C>A c.283C>A (p.Leu95Ile) c.460C>A (p.Leu154Ile) n.928C>A c.167C>A c.223C>A (p.Leu75Ile) n.627C>A c.690+2239C>A (n.690+2239C>A) c.733C>A (p.Leu245Ile) | |
| 20 | g.63442421T>A | CA511210214 | KCNQ2 | c.801A>T (p.Ala267=) n.539A>T c.282A>T (p.Ala94=) c.459A>T (p.Ala153=) n.927A>T c.166A>T c.222A>T (p.Ala74=) n.626A>T c.690+2238A>T (n.690+2238A>T) c.732A>T (p.Ala244=) | |
| 20 | g.63442421T>C | CA511210216 | KCNQ2 | c.801A>G (p.Ala267=) n.539A>G c.282A>G (p.Ala94=) c.459A>G (p.Ala153=) n.927A>G c.166A>G c.222A>G (p.Ala74=) n.626A>G c.690+2238A>G (n.690+2238A>G) c.732A>G (p.Ala244=) | gnomAD v4 |
| 20 | g.63442421T>G | CA511210218 | KCNQ2 | c.801A>C (p.Ala267=) n.539A>C c.282A>C (p.Ala94=) c.459A>C (p.Ala153=) n.927A>C c.166A>C c.222A>C (p.Ala74=) n.626A>C c.690+2238A>C (n.690+2238A>C) c.732A>C (p.Ala244=) | |
| 20 | g.63442422G>A | CA409653373 | KCNQ2 | c.800C>T (p.Ala267Val) n.538C>T c.281C>T (p.Ala94Val) c.458C>T (p.Ala153Val) n.926C>T c.165C>T c.221C>T (p.Ala74Val) n.625C>T c.690+2237C>T (n.690+2237C>T) c.731C>T (p.Ala244Val) | ClinVar dbSNP |
| 20 | g.63442422G>C | CA409653376 | KCNQ2 | c.800C>G (p.Ala267Gly) n.538C>G c.281C>G (p.Ala94Gly) c.458C>G (p.Ala153Gly) n.926C>G c.165C>G c.221C>G (p.Ala74Gly) n.625C>G c.690+2237C>G (n.690+2237C>G) c.731C>G (p.Ala244Gly) | |
| 20 | g.63442422G= | CA2374793481 | KCNQ2 | c.800C= (p.Ala267=) n.538C= c.281C= (p.Ala94=) c.458C= (p.Ala153=) n.926C= c.165C= c.221C= (p.Ala74=) n.625C= c.690+2237C= (n.690+2237C=) c.731C= (p.Ala244=) | |
| 20 | g.63442422G>T | CA409653375 | KCNQ2 | c.800C>A (p.Ala267Glu) n.538C>A c.281C>A (p.Ala94Glu) c.458C>A (p.Ala153Glu) n.926C>A c.165C>A c.221C>A (p.Ala74Glu) n.625C>A c.690+2237C>A (n.690+2237C>A) c.731C>A (p.Ala244Glu) | |
| 20 | g.63442423C>A | CA409653378 | KCNQ2 | c.799G>T (p.Ala267Ser) n.537G>T c.280G>T (p.Ala94Ser) c.457G>T (p.Ala153Ser) n.925G>T c.164G>T c.220G>T (p.Ala74Ser) n.624G>T c.690+2236G>T (n.690+2236G>T) c.730G>T (p.Ala244Ser) | ClinVar |
| 20 | g.63442423C>G | CA409653380 | KCNQ2 | c.799G>C (p.Ala267Pro) n.537G>C c.280G>C (p.Ala94Pro) c.457G>C (p.Ala153Pro) n.925G>C c.164G>C c.220G>C (p.Ala74Pro) n.624G>C c.690+2236G>C (n.690+2236G>C) c.730G>C (p.Ala244Pro) | |
| 20 | g.63442423C>T | CA409653381 | KCNQ2 | c.799G>A (p.Ala267Thr) n.537G>A c.280G>A (p.Ala94Thr) c.457G>A (p.Ala153Thr) n.925G>A c.164G>A c.220G>A (p.Ala74Thr) n.624G>A c.690+2236G>A (n.690+2236G>A) c.730G>A (p.Ala244Thr) | ClinVar dbSNP |
| 20 | g.63442424A= | CA2374793482 | KCNQ2 | c.798T= (p.Asp266=) n.536T= c.279T= (p.Asp93=) c.456T= (p.Asp152=) n.924T= c.163T= c.219T= (p.Asp73=) n.623T= c.690+2235T= (n.690+2235T=) c.729T= (p.Asp243=) | |
| 20 | g.63442424A>C | CA409653383 | KCNQ2 | c.798T>G (p.Asp266Glu) n.536T>G c.279T>G (p.Asp93Glu) c.456T>G (p.Asp152Glu) n.924T>G c.163T>G c.219T>G (p.Asp73Glu) n.623T>G c.690+2235T>G (n.690+2235T>G) c.729T>G (p.Asp243Glu) |