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.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) | |
| 20 | g.63442424A>G | CA511210225 | KCNQ2 | c.798T>C (p.Asp266=) n.536T>C c.279T>C (p.Asp93=) c.456T>C (p.Asp152=) n.924T>C c.163T>C c.219T>C (p.Asp73=) n.623T>C c.690+2235T>C (n.690+2235T>C) c.729T>C (p.Asp243=) | ClinVar |
| 20 | g.63442424A>T | CA16044334 | KCNQ2 | c.798T>A (p.Asp266Glu) n.536T>A c.279T>A (p.Asp93Glu) c.456T>A (p.Asp152Glu) n.924T>A c.163T>A c.219T>A (p.Asp73Glu) n.623T>A c.690+2235T>A (n.690+2235T>A) c.729T>A (p.Asp243Glu) | ClinVar dbSNP |
| 20 | g.63442425T>A | CA409653384 | KCNQ2 | c.797A>T (p.Asp266Val) n.535A>T c.278A>T (p.Asp93Val) c.455A>T (p.Asp152Val) n.923A>T c.162A>T c.218A>T (p.Asp73Val) n.622A>T c.690+2234A>T (n.690+2234A>T) c.728A>T (p.Asp243Val) | ClinVar |
| 20 | g.63442425T>C | CA409653386 | KCNQ2 | c.797A>G (p.Asp266Gly) n.535A>G c.278A>G (p.Asp93Gly) c.455A>G (p.Asp152Gly) n.923A>G c.162A>G c.218A>G (p.Asp73Gly) n.622A>G c.690+2234A>G (n.690+2234A>G) c.728A>G (p.Asp243Gly) | ClinVar dbSNP |
| 20 | g.63442425T>G | CA409653388 | KCNQ2 | c.797A>C (p.Asp266Ala) n.535A>C c.278A>C (p.Asp93Ala) c.455A>C (p.Asp152Ala) n.923A>C c.162A>C c.218A>C (p.Asp73Ala) n.622A>C c.690+2234A>C (n.690+2234A>C) c.728A>C (p.Asp243Ala) | |
| 20 | g.63442425T= | CA2374793483 | KCNQ2 | c.797A= (p.Asp266=) n.535A= c.278A= (p.Asp93=) c.455A= (p.Asp152=) n.923A= c.162A= c.218A= (p.Asp73=) n.622A= c.690+2234A= (n.690+2234A=) c.728A= (p.Asp243=) | |
| 20 | g.63442426C>A | CA409653389 | KCNQ2 | c.796G>T (p.Asp266Tyr) n.534G>T c.277G>T (p.Asp93Tyr) c.454G>T (p.Asp152Tyr) n.922G>T c.161G>T c.217G>T (p.Asp73Tyr) n.621G>T c.690+2233G>T (n.690+2233G>T) c.727G>T (p.Asp243Tyr) | |
| 20 | g.63442426C>G | CA409653391 | KCNQ2 | c.796G>C (p.Asp266His) n.534G>C c.277G>C (p.Asp93His) c.454G>C (p.Asp152His) n.922G>C c.161G>C c.217G>C (p.Asp73His) n.621G>C c.690+2233G>C (n.690+2233G>C) c.727G>C (p.Asp243His) | ClinVar |
| 20 | g.63442426C>T | CA409653392 | KCNQ2 | c.796G>A (p.Asp266Asn) n.534G>A c.277G>A (p.Asp93Asn) c.454G>A (p.Asp152Asn) n.922G>A c.161G>A c.217G>A (p.Asp73Asn) n.621G>A c.690+2233G>A (n.690+2233G>A) c.727G>A (p.Asp243Asn) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63442427C>A | CA511210232 | KCNQ2 | c.795G>T (p.Ala265=) n.533G>T c.276G>T (p.Ala92=) c.453G>T (p.Ala151=) n.921G>T c.160G>T c.216G>T (p.Ala72=) n.620G>T c.690+2232G>T (n.690+2232G>T) c.726G>T (p.Ala242=) | gnomAD v4 |
| 20 | g.63442427C= | CA2374793484 | KCNQ2 | c.795G= (p.Ala265=) n.533G= c.276G= (p.Ala92=) c.453G= (p.Ala151=) n.921G= c.160G= c.216G= (p.Ala72=) n.620G= c.690+2232G= (n.690+2232G=) c.726G= (p.Ala242=) | |
| 20 | g.63442427C>G | CA511210235 | KCNQ2 | c.795G>C (p.Ala265=) n.533G>C c.276G>C (p.Ala92=) c.453G>C (p.Ala151=) n.921G>C c.160G>C c.216G>C (p.Ala72=) n.620G>C c.690+2232G>C (n.690+2232G>C) c.726G>C (p.Ala242=) | |
| 20 | g.63442427C>T | CA231199 | KCNQ2 | c.795G>A (p.Ala265=) n.533G>A c.276G>A (p.Ala92=) c.453G>A (p.Ala151=) n.921G>A c.160G>A c.216G>A (p.Ala72=) n.620G>A c.690+2232G>A (n.690+2232G>A) c.726G>A (p.Ala242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63442427_63442428delinsGGAT | CA2695230047 | KCNQ2 | c.794_795delinsATCC (p.Ala265AspfsTer9) n.532_533delinsATCC c.275_276delinsATCC (p.Ala92AspfsTer9) c.452_453delinsATCC (p.Ala151AspfsTer9) n.920_921delinsATCC c.159_160delinsATCC c.215_216delinsATCC (p.Ala72AspfsTer29) n.619_620delinsATCC c.690+2231_690+2232delinsATCC (n.690+2231_690+2232delinsATCC) c.725_726delinsATCC (p.Ala242AspfsTer9) | |
| 20 | g.63442428del | CA2653802108 | KCNQ2 | c.794del (p.Ala265GlyfsTer8) n.532del c.275del (p.Ala92GlyfsTer8) c.452del (p.Ala151GlyfsTer8) n.920del c.159del c.215del (p.Ala72GlyfsTer28) n.619del c.690+2231del (n.690+2231del) c.725del (p.Ala242GlyfsTer8) | gnomAD v4 |
| 20 | g.63442428G>A | CA150769 | KCNQ2 | c.794C>T (p.Ala265Val) n.532C>T c.275C>T (p.Ala92Val) c.452C>T (p.Ala151Val) n.920C>T c.159C>T c.215C>T (p.Ala72Val) n.619C>T c.690+2231C>T (n.690+2231C>T) c.725C>T (p.Ala242Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63442428G>C | CA409653396 | KCNQ2 | c.794C>G (p.Ala265Gly) n.532C>G c.275C>G (p.Ala92Gly) c.452C>G (p.Ala151Gly) n.920C>G c.159C>G c.215C>G (p.Ala72Gly) n.619C>G c.690+2231C>G (n.690+2231C>G) c.725C>G (p.Ala242Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63442428G= | CA2374793485 | KCNQ2 | c.794C= (p.Ala265=) n.532C= c.275C= (p.Ala92=) c.452C= (p.Ala151=) n.920C= c.159C= c.215C= (p.Ala72=) n.619C= c.690+2231C= (n.690+2231C=) c.725C= (p.Ala242=) | |
| 20 | g.63442428G>T | CA409653395 | KCNQ2 | c.794C>A (p.Ala265Glu) n.532C>A c.275C>A (p.Ala92Glu) c.452C>A (p.Ala151Glu) n.920C>A c.159C>A c.215C>A (p.Ala72Glu) n.619C>A c.690+2231C>A (n.690+2231C>A) c.725C>A (p.Ala242Glu) | |
| 20 | g.63442428_63442429insGATG | CA1139666799 | KCNQ2 | c.794_795insATCC (p.Asp266SerfsTer?) n.532_533insATCC c.275_276insATCC (p.Asp93SerfsTer?) c.452_453insATCC (p.Asp152SerfsTer?) n.920_921insATCC c.159_160insATCC c.215_216insATCC (p.Asp73SerfsTer23) n.619_620insATCC c.690+2231_690+2232insATCC (n.690+2231_690+2232insATCC) c.725_726insATCC (p.Asp243SerfsTer?) | ClinVar dbSNP |
| 20 | g.63442429C>A | CA409653398 | KCNQ2 | c.793G>T (p.Ala265Ser) n.531G>T c.274G>T (p.Ala92Ser) c.451G>T (p.Ala151Ser) n.919G>T c.158G>T c.214G>T (p.Ala72Ser) n.618G>T c.690+2230G>T (n.690+2230G>T) c.724G>T (p.Ala242Ser) | |
| 20 | g.63442429C= | CA2374793486 | KCNQ2 | c.793G= (p.Ala265=) n.531G= c.274G= (p.Ala92=) c.451G= (p.Ala151=) n.919G= c.158G= c.214G= (p.Ala72=) n.618G= c.690+2230G= (n.690+2230G=) c.724G= (p.Ala242=) | |
| 20 | g.63442429C>G | CA10654817 | KCNQ2 | c.793G>C (p.Ala265Pro) n.531G>C c.274G>C (p.Ala92Pro) c.451G>C (p.Ala151Pro) n.919G>C c.158G>C c.214G>C (p.Ala72Pro) n.618G>C c.690+2230G>C (n.690+2230G>C) c.724G>C (p.Ala242Pro) | ClinVar dbSNP |