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.63444714T>A | CA16620975 | KCNQ2 | c.635A>T (p.Asp212Val) n.373A>T n.29A>T c.116A>T (p.Asp39Val) c.293A>T (p.Asp98Val) n.761A>T n.477A>T c.56A>T (p.Asp19Val) n.460A>T c.566A>T (p.Asp189Val) | ClinVar dbSNP |
| 20 | g.63444714T>C | CA342517 | KCNQ2 | c.635A>G (p.Asp212Gly) n.373A>G n.29A>G c.116A>G (p.Asp39Gly) c.293A>G (p.Asp98Gly) n.761A>G n.477A>G c.56A>G (p.Asp19Gly) n.460A>G c.566A>G (p.Asp189Gly) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444714T>G | CA409654740 | KCNQ2 | c.635A>C (p.Asp212Ala) n.373A>C n.29A>C c.116A>C (p.Asp39Ala) c.293A>C (p.Asp98Ala) n.761A>C n.477A>C c.56A>C (p.Asp19Ala) n.460A>C c.566A>C (p.Asp189Ala) | ClinVar dbSNP |
| 20 | g.63444714T= | CA2374795962 | KCNQ2 | c.635A= (p.Asp212=) n.373A= n.29A= c.116A= (p.Asp39=) c.293A= (p.Asp98=) n.761A= n.477A= c.56A= (p.Asp19=) n.460A= c.566A= (p.Asp189=) | |
| 20 | g.63444715C>A | CA409654743 | KCNQ2 | c.634G>T (p.Asp212Tyr) n.372G>T n.28G>T c.115G>T (p.Asp39Tyr) c.292G>T (p.Asp98Tyr) n.760G>T n.476G>T c.55G>T (p.Asp19Tyr) n.459G>T c.565G>T (p.Asp189Tyr) | ClinVar gnomAD v4 |
| 20 | g.63444715C>G | CA409654742 | KCNQ2 | c.634G>C (p.Asp212His) n.372G>C n.28G>C c.115G>C (p.Asp39His) c.292G>C (p.Asp98His) n.760G>C n.476G>C c.55G>C (p.Asp19His) n.459G>C c.565G>C (p.Asp189His) | |
| 20 | g.63444715C>T | CA409654741 | KCNQ2 | c.634G>A (p.Asp212Asn) n.372G>A n.28G>A c.115G>A (p.Asp39Asn) c.292G>A (p.Asp98Asn) n.760G>A n.476G>A c.55G>A (p.Asp19Asn) n.459G>A c.565G>A (p.Asp189Asn) | ClinVar |
| 20 | g.63444716dup | CA2580098390 | KCNQ2 | c.634dup (p.Asp212GlyfsTer?) n.372dup n.28dup c.115dup (p.Asp39GlyfsTer?) c.292dup (p.Asp98GlyfsTer?) n.760dup n.476dup c.55dup (p.Asp19GlyfsTer?) n.459dup c.565dup (p.Asp189GlyfsTer?) | ClinVar |
| 20 | g.63444716C>A | CA409654744 | KCNQ2 | c.633G>T (p.Met211Ile) n.371G>T n.27G>T c.114G>T (p.Met38Ile) c.291G>T (p.Met97Ile) n.759G>T n.475G>T c.54G>T (p.Met18Ile) n.458G>T c.564G>T (p.Met188Ile) | gnomAD v4 |
| 20 | g.63444716C>G | CA409654745 | KCNQ2 | c.633G>C (p.Met211Ile) n.371G>C n.27G>C c.114G>C (p.Met38Ile) c.291G>C (p.Met97Ile) n.759G>C n.475G>C c.54G>C (p.Met18Ile) n.458G>C c.564G>C (p.Met188Ile) | |
| 20 | g.63444716C>T | CA409654746 | KCNQ2 | c.633G>A (p.Met211Ile) n.371G>A n.27G>A c.114G>A (p.Met38Ile) c.291G>A (p.Met97Ile) n.759G>A n.475G>A c.54G>A (p.Met18Ile) n.458G>A c.564G>A (p.Met188Ile) | gnomAD v4 |
| 20 | g.63444717A>C | CA409654747 | KCNQ2 | c.632T>G (p.Met211Arg) n.370T>G n.26T>G c.113T>G (p.Met38Arg) c.290T>G (p.Met97Arg) n.758T>G n.474T>G c.53T>G (p.Met18Arg) n.457T>G c.563T>G (p.Met188Arg) | |
| 20 | g.63444717A>G | CA409654748 | KCNQ2 | c.632T>C (p.Met211Thr) n.370T>C n.26T>C c.113T>C (p.Met38Thr) c.290T>C (p.Met97Thr) n.758T>C n.474T>C c.53T>C (p.Met18Thr) n.457T>C c.563T>C (p.Met188Thr) | |
| 20 | g.63444717A>T | CA409654749 | KCNQ2 | c.632T>A (p.Met211Lys) n.370T>A n.26T>A c.113T>A (p.Met38Lys) c.290T>A (p.Met97Lys) n.758T>A n.474T>A c.53T>A (p.Met18Lys) n.457T>A c.563T>A (p.Met188Lys) | |
| 20 | g.63444718T>A | CA409654751 | KCNQ2 | c.631A>T (p.Met211Leu) n.369A>T n.25A>T c.112A>T (p.Met38Leu) c.289A>T (p.Met97Leu) n.757A>T n.473A>T c.52A>T (p.Met18Leu) n.456A>T c.562A>T (p.Met188Leu) | |
| 20 | g.63444718T>C | CA16608425 | KCNQ2 | c.631A>G (p.Met211Val) n.369A>G n.25A>G c.112A>G (p.Met38Val) c.289A>G (p.Met97Val) n.757A>G n.473A>G c.52A>G (p.Met18Val) n.456A>G c.562A>G (p.Met188Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444718T>G | CA409654750 | KCNQ2 | c.631A>C (p.Met211Leu) n.369A>C n.25A>C c.112A>C (p.Met38Leu) c.289A>C (p.Met97Leu) n.757A>C n.473A>C c.52A>C (p.Met18Leu) n.456A>C c.562A>C (p.Met188Leu) | |
| 20 | g.63444718T= | CA2374795975 | KCNQ2 | c.631A= (p.Met211=) n.369A= n.25A= c.112A= (p.Met38=) c.289A= (p.Met97=) n.757A= n.473A= c.52A= (p.Met18=) n.456A= c.562A= (p.Met188=) | |
| 20 | g.63444719G>A | CA511211321 | KCNQ2 | c.630C>T (p.Arg210=) n.368C>T n.24C>T c.111C>T (p.Arg37=) c.288C>T (p.Arg96=) n.756C>T n.472C>T c.51C>T (p.Arg17=) n.455C>T c.561C>T (p.Arg187=) | |
| 20 | g.63444719G>C | CA511211322 | KCNQ2 | c.630C>G (p.Arg210=) n.368C>G n.24C>G c.111C>G (p.Arg37=) c.288C>G (p.Arg96=) n.756C>G n.472C>G c.51C>G (p.Arg17=) n.455C>G c.561C>G (p.Arg187=) | |
| 20 | g.63444719G= | CA2374795976 | KCNQ2 | c.630C= (p.Arg210=) n.368C= n.24C= c.111C= (p.Arg37=) c.288C= (p.Arg96=) n.756C= n.472C= c.51C= (p.Arg17=) n.455C= c.561C= (p.Arg187=) | |
| 20 | g.63444719G>T | CA511211324 | KCNQ2 | c.630C>A (p.Arg210=) n.368C>A n.24C>A c.111C>A (p.Arg37=) c.288C>A (p.Arg96=) n.756C>A n.472C>A c.51C>A (p.Arg17=) n.455C>A c.561C>A (p.Arg187=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444720C>A | CA409654752 | KCNQ2 | c.629G>T (p.Arg210Leu) n.367G>T n.23G>T c.110G>T (p.Arg37Leu) c.287G>T (p.Arg96Leu) n.755G>T n.471G>T c.50G>T (p.Arg17Leu) n.454G>T c.560G>T (p.Arg187Leu) | ClinVar gnomAD v4 |
| 20 | g.63444720C= | CA2374795986 | KCNQ2 | c.629G= (p.Arg210=) n.367G= n.23G= c.110G= (p.Arg37=) c.287G= (p.Arg96=) n.755G= n.471G= c.50G= (p.Arg17=) n.454G= c.560G= (p.Arg187=) | |
| 20 | g.63444720C>G | CA10603678 | KCNQ2 | c.629G>C (p.Arg210Pro) n.367G>C n.23G>C c.110G>C (p.Arg37Pro) c.287G>C (p.Arg96Pro) n.755G>C n.471G>C c.50G>C (p.Arg17Pro) n.454G>C c.560G>C (p.Arg187Pro) | ClinVar dbSNP |
| 20 | g.63444720C>T | CA10603489 | KCNQ2 | c.629G>A (p.Arg210His) n.367G>A n.23G>A c.110G>A (p.Arg37His) c.287G>A (p.Arg96His) n.755G>A n.471G>A c.50G>A (p.Arg17His) n.454G>A c.560G>A (p.Arg187His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444721G>A | CA315370 | KCNQ2 | c.628C>T (p.Arg210Cys) n.366C>T n.22C>T c.109C>T (p.Arg37Cys) c.286C>T (p.Arg96Cys) n.754C>T n.470C>T c.49C>T (p.Arg17Cys) n.453C>T c.559C>T (p.Arg187Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444721G>C | CA409654753 | KCNQ2 | c.628C>G (p.Arg210Gly) n.366C>G n.22C>G c.109C>G (p.Arg37Gly) c.286C>G (p.Arg96Gly) n.754C>G n.470C>G c.49C>G (p.Arg17Gly) n.453C>G c.559C>G (p.Arg187Gly) | gnomAD v4 |
| 20 | g.63444721G= | CA2374795996 | KCNQ2 | c.628C= (p.Arg210=) n.366C= n.22C= c.109C= (p.Arg37=) c.286C= (p.Arg96=) n.754C= n.470C= c.49C= (p.Arg17=) n.453C= c.559C= (p.Arg187=) | |
| 20 | g.63444721G>T | CA409654754 | KCNQ2 | c.628C>A (p.Arg210Ser) n.366C>A n.22C>A c.109C>A (p.Arg37Ser) c.286C>A (p.Arg96Ser) n.754C>A n.470C>A c.49C>A (p.Arg17Ser) n.453C>A c.559C>A (p.Arg187Ser) | gnomAD v4 |
| 20 | g.63444722G>A | CA511211332 | KCNQ2 | c.627C>T (p.Ile209=) n.365C>T n.21C>T c.108C>T (p.Ile36=) c.285C>T (p.Ile95=) n.753C>T n.469C>T c.48C>T (p.Ile16=) n.452C>T c.558C>T (p.Ile186=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63444722G>C | CA409654755 | KCNQ2 | c.627C>G (p.Ile209Met) n.365C>G n.21C>G c.108C>G (p.Ile36Met) c.285C>G (p.Ile95Met) n.753C>G n.469C>G c.48C>G (p.Ile16Met) n.452C>G c.558C>G (p.Ile186Met) | gnomAD v4 |
| 20 | g.63444722G= | CA2374796003 | KCNQ2 | c.627C= (p.Ile209=) n.365C= n.21C= c.108C= (p.Ile36=) c.285C= (p.Ile95=) n.753C= n.469C= c.48C= (p.Ile16=) n.452C= c.558C= (p.Ile186=) | |
| 20 | g.63444722G>T | CA9958772 | KCNQ2 | c.627C>A (p.Ile209=) n.365C>A n.21C>A c.108C>A (p.Ile36=) c.285C>A (p.Ile95=) n.753C>A n.469C>A c.48C>A (p.Ile16=) n.452C>A c.558C>A (p.Ile186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63444723A= | CA2374796008 | KCNQ2 | c.626T= (p.Ile209=) n.364T= n.20T= c.107T= (p.Ile36=) c.284T= (p.Ile95=) n.752T= n.468T= c.47T= (p.Ile16=) n.451T= c.557T= (p.Ile186=) | |
| 20 | g.63444723A>C | CA409654756 | KCNQ2 | c.626T>G (p.Ile209Ser) n.364T>G n.20T>G c.107T>G (p.Ile36Ser) c.284T>G (p.Ile95Ser) n.752T>G n.468T>G c.47T>G (p.Ile16Ser) n.451T>G c.557T>G (p.Ile186Ser) | ClinVar dbSNP |
| 20 | g.63444723A>G | CA409654757 | KCNQ2 | c.626T>C (p.Ile209Thr) n.364T>C n.20T>C c.107T>C (p.Ile36Thr) c.284T>C (p.Ile95Thr) n.752T>C n.468T>C c.47T>C (p.Ile16Thr) n.451T>C c.557T>C (p.Ile186Thr) | ClinVar dbSNP |
| 20 | g.63444723A>T | CA409654758 | KCNQ2 | c.626T>A (p.Ile209Asn) n.364T>A n.20T>A c.107T>A (p.Ile36Asn) c.284T>A (p.Ile95Asn) n.752T>A n.468T>A c.47T>A (p.Ile16Asn) n.451T>A c.557T>A (p.Ile186Asn) | |
| 20 | g.63444724T>A | CA409654759 | KCNQ2 | c.625A>T (p.Ile209Phe) n.363A>T n.19A>T c.106A>T (p.Ile36Phe) c.283A>T (p.Ile95Phe) n.751A>T n.467A>T c.46A>T (p.Ile16Phe) n.450A>T c.556A>T (p.Ile186Phe) | |
| 20 | g.63444724T>C | CA409654760 | KCNQ2 | c.625A>G (p.Ile209Val) n.363A>G n.19A>G c.106A>G (p.Ile36Val) c.283A>G (p.Ile95Val) n.751A>G n.467A>G c.46A>G (p.Ile16Val) n.450A>G c.556A>G (p.Ile186Val) | gnomAD v4 |
| 20 | g.63444724T>G | CA409654761 | KCNQ2 | c.625A>C (p.Ile209Leu) n.363A>C n.19A>C c.106A>C (p.Ile36Leu) c.283A>C (p.Ile95Leu) n.751A>C n.467A>C c.46A>C (p.Ile16Leu) n.450A>C c.556A>C (p.Ile186Leu) | |
| 20 | g.63444724_63444725delinsTC | CA2374796014 | KCNQ2 | c.624_625delinsGA (p.Met208=) n.362_363delinsGA n.18_19delinsGA c.105_106delinsGA (p.Met35=) c.282_283delinsGA (p.Met94=) n.750_751delinsGA n.466_467delinsGA c.45_46delinsGA (p.Met15=) n.449_450delinsGA c.555_556delinsGA (p.Met185=) | |
| 20 | g.63444725del | CA10588705 | KCNQ2 | c.624del (p.Met208IlefsTer?) n.362del n.18del c.105del (p.Met35IlefsTer?) c.282del (p.Met94IlefsTer?) n.750del n.466del c.45del (p.Met15IlefsTer?) n.449del c.624del (p.Met208IlefsTer26) c.555del (p.Met185IlefsTer?) | ClinVar dbSNP |
| 20 | g.63444725C>A | CA409654764 | KCNQ2 | c.624G>T (p.Met208Ile) n.362G>T n.18G>T c.105G>T (p.Met35Ile) c.282G>T (p.Met94Ile) n.750G>T n.466G>T c.45G>T (p.Met15Ile) n.449G>T c.555G>T (p.Met185Ile) | |
| 20 | g.63444725C>G | CA409654762 | KCNQ2 | c.624G>C (p.Met208Ile) n.362G>C n.18G>C c.105G>C (p.Met35Ile) c.282G>C (p.Met94Ile) n.750G>C n.466G>C c.45G>C (p.Met15Ile) n.449G>C c.555G>C (p.Met185Ile) | gnomAD v4 |
| 20 | g.63444725C>T | CA409654763 | KCNQ2 | c.624G>A (p.Met208Ile) n.362G>A n.18G>A c.105G>A (p.Met35Ile) c.282G>A (p.Met94Ile) n.750G>A n.466G>A c.45G>A (p.Met15Ile) n.449G>A c.555G>A (p.Met185Ile) | gnomAD v4 |
| 20 | g.63444726A>C | CA409654765 | KCNQ2 | c.623T>G (p.Met208Arg) n.361T>G n.17T>G c.104T>G (p.Met35Arg) c.281T>G (p.Met94Arg) n.749T>G n.465T>G c.44T>G (p.Met15Arg) n.448T>G c.554T>G (p.Met185Arg) | |
| 20 | g.63444726A>G | CA409654766 | KCNQ2 | c.623T>C (p.Met208Thr) n.361T>C n.17T>C c.104T>C (p.Met35Thr) c.281T>C (p.Met94Thr) n.749T>C n.465T>C c.44T>C (p.Met15Thr) n.448T>C c.554T>C (p.Met185Thr) | |
| 20 | g.63444726A>T | CA409654767 | KCNQ2 | c.623T>A (p.Met208Lys) n.361T>A n.17T>A c.104T>A (p.Met35Lys) c.281T>A (p.Met94Lys) n.749T>A n.465T>A c.44T>A (p.Met15Lys) n.448T>A c.554T>A (p.Met185Lys) | |
| 20 | g.63444727T>A | CA409654768 | KCNQ2 | c.622A>T (p.Met208Leu) n.360A>T n.16A>T c.103A>T (p.Met35Leu) c.280A>T (p.Met94Leu) n.748A>T n.464A>T c.43A>T (p.Met15Leu) n.447A>T c.553A>T (p.Met185Leu) |