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.63444663C>A | CA409654644 | KCNQ2 | c.686G>T (p.Ser229Ile) n.424G>T n.80G>T c.167G>T (p.Ser56Ile) c.344G>T (p.Ser115Ile) n.812G>T n.528G>T c.51G>T c.107G>T (p.Ser36Ile) n.511G>T c.617G>T (p.Ser206Ile) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444663C>G | CA409654645 | KCNQ2 | c.686G>C (p.Ser229Thr) n.424G>C n.80G>C c.167G>C (p.Ser56Thr) c.344G>C (p.Ser115Thr) n.812G>C n.528G>C c.51G>C c.107G>C (p.Ser36Thr) n.511G>C c.617G>C (p.Ser206Thr) | |
| 20 | g.63444663C>T | CA409654646 | KCNQ2 | c.686G>A (p.Ser229Asn) n.424G>A n.80G>A c.167G>A (p.Ser56Asn) c.344G>A (p.Ser115Asn) n.812G>A n.528G>A c.51G>A c.107G>A (p.Ser36Asn) n.511G>A c.617G>A (p.Ser206Asn) | gnomAD v4 |
| 20 | g.63444664T>A | CA409654647 | KCNQ2 | c.685A>T (p.Ser229Cys) n.423A>T n.79A>T c.166A>T (p.Ser56Cys) c.343A>T (p.Ser115Cys) n.811A>T n.527A>T c.50A>T c.106A>T (p.Ser36Cys) n.510A>T c.616A>T (p.Ser206Cys) | |
| 20 | g.63444664T>C | CA409654648 | KCNQ2 | c.685A>G (p.Ser229Gly) n.423A>G n.79A>G c.166A>G (p.Ser56Gly) c.343A>G (p.Ser115Gly) n.811A>G n.527A>G c.50A>G c.106A>G (p.Ser36Gly) n.510A>G c.616A>G (p.Ser206Gly) | ClinVar gnomAD v4 |
| 20 | g.63444664T>G | CA409654649 | KCNQ2 | c.685A>C (p.Ser229Arg) n.423A>C n.79A>C c.166A>C (p.Ser56Arg) c.343A>C (p.Ser115Arg) n.811A>C n.527A>C c.50A>C c.106A>C (p.Ser36Arg) n.510A>C c.616A>C (p.Ser206Arg) | |
| 20 | g.63444665G>A | CA511211145 | KCNQ2 | c.684C>T (p.His228=) n.422C>T n.78C>T c.165C>T (p.His55=) c.342C>T (p.His114=) n.810C>T n.526C>T c.49C>T c.105C>T (p.His35=) n.509C>T c.615C>T (p.His205=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63444665G>C | CA409654650 | KCNQ2 | c.684C>G (p.His228Gln) n.422C>G n.78C>G c.165C>G (p.His55Gln) c.342C>G (p.His114Gln) n.810C>G n.526C>G c.49C>G c.105C>G (p.His35Gln) n.509C>G c.615C>G (p.His205Gln) | |
| 20 | g.63444665G= | CA2374795842 | KCNQ2 | c.684C= (p.His228=) n.422C= n.78C= c.165C= (p.His55=) c.342C= (p.His114=) n.810C= n.526C= c.49C= c.105C= (p.His35=) n.509C= c.615C= (p.His205=) | |
| 20 | g.63444665G>T | CA342521 | KCNQ2 | c.684C>A (p.His228Gln) n.422C>A n.78C>A c.165C>A (p.His55Gln) c.342C>A (p.His114Gln) n.810C>A n.526C>A c.49C>A c.105C>A (p.His35Gln) n.509C>A c.615C>A (p.His205Gln) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444666T>A | CA409654651 | KCNQ2 | c.683A>T (p.His228Leu) n.421A>T n.77A>T c.164A>T (p.His55Leu) c.341A>T (p.His114Leu) n.809A>T n.525A>T c.48A>T c.104A>T (p.His35Leu) n.508A>T c.614A>T (p.His205Leu) | |
| 20 | g.63444666T>C | CA409654652 | KCNQ2 | c.683A>G (p.His228Arg) n.421A>G n.77A>G c.164A>G (p.His55Arg) c.341A>G (p.His114Arg) n.809A>G n.525A>G c.48A>G c.104A>G (p.His35Arg) n.508A>G c.614A>G (p.His205Arg) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444666T>G | CA409654653 | KCNQ2 | c.683A>C (p.His228Pro) n.421A>C n.77A>C c.164A>C (p.His55Pro) c.341A>C (p.His114Pro) n.809A>C n.525A>C c.48A>C c.104A>C (p.His35Pro) n.508A>C c.614A>C (p.His205Pro) | |
| 20 | g.63444666T= | CA2374795850 | KCNQ2 | c.683A= (p.His228=) n.421A= n.77A= c.164A= (p.His55=) c.341A= (p.His114=) n.809A= n.525A= c.48A= c.104A= (p.His35=) n.508A= c.614A= (p.His205=) | |
| 20 | g.63444667G>A | CA409654654 | KCNQ2 | c.682C>T (p.His228Tyr) n.420C>T n.76C>T c.163C>T (p.His55Tyr) c.340C>T (p.His114Tyr) n.808C>T n.524C>T c.47C>T c.103C>T (p.His35Tyr) n.507C>T c.613C>T (p.His205Tyr) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444667G>C | CA409654656 | KCNQ2 | c.682C>G (p.His228Asp) n.420C>G n.76C>G c.163C>G (p.His55Asp) c.340C>G (p.His114Asp) n.808C>G n.524C>G c.47C>G c.103C>G (p.His35Asp) n.507C>G c.613C>G (p.His205Asp) | ClinVar |
| 20 | g.63444667G= | CA2374795854 | KCNQ2 | c.682C= (p.His228=) n.420C= n.76C= c.163C= (p.His55=) c.340C= (p.His114=) n.808C= n.524C= c.47C= c.103C= (p.His35=) n.507C= c.613C= (p.His205=) | |
| 20 | g.63444667G>T | CA409654655 | KCNQ2 | c.682C>A (p.His228Asn) n.420C>A n.76C>A c.163C>A (p.His55Asn) c.340C>A (p.His114Asn) n.808C>A n.524C>A c.47C>A c.103C>A (p.His35Asn) n.507C>A c.613C>A (p.His205Asn) | gnomAD v4 |
| 20 | g.63444668G>A | CA511211155 | KCNQ2 | c.681C>T (p.Ala227=) n.419C>T n.75C>T c.162C>T (p.Ala54=) c.339C>T (p.Ala113=) n.807C>T n.523C>T c.46C>T c.102C>T (p.Ala34=) n.506C>T c.612C>T (p.Ala204=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444668G>C | CA511211159 | KCNQ2 | c.681C>G (p.Ala227=) n.419C>G n.75C>G c.162C>G (p.Ala54=) c.339C>G (p.Ala113=) n.807C>G n.523C>G c.46C>G c.102C>G (p.Ala34=) n.506C>G c.612C>G (p.Ala204=) | |
| 20 | g.63444668G= | CA2374795861 | KCNQ2 | c.681C= (p.Ala227=) n.419C= n.75C= c.162C= (p.Ala54=) c.339C= (p.Ala113=) n.807C= n.523C= c.46C= c.102C= (p.Ala34=) n.506C= c.612C= (p.Ala204=) | |
| 20 | g.63444668G>T | CA511211157 | KCNQ2 | c.681C>A (p.Ala227=) n.419C>A n.75C>A c.162C>A (p.Ala54=) c.339C>A (p.Ala113=) n.807C>A n.523C>A c.46C>A c.102C>A (p.Ala34=) n.506C>A c.612C>A (p.Ala204=) | dbSNP gnomAD v4 |
| 20 | g.63444669G>A | CA409654657 | KCNQ2 | c.680C>T (p.Ala227Val) n.418C>T n.74C>T c.161C>T (p.Ala54Val) c.338C>T (p.Ala113Val) n.806C>T n.522C>T c.45C>T c.101C>T (p.Ala34Val) n.505C>T c.611C>T (p.Ala204Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444669G>C | CA409654658 | KCNQ2 | c.680C>G (p.Ala227Gly) n.418C>G n.74C>G c.161C>G (p.Ala54Gly) c.338C>G (p.Ala113Gly) n.806C>G n.522C>G c.45C>G c.101C>G (p.Ala34Gly) n.505C>G c.611C>G (p.Ala204Gly) | |
| 20 | g.63444669G>T | CA409654659 | KCNQ2 | c.680C>A (p.Ala227Asp) n.418C>A n.74C>A c.161C>A (p.Ala54Asp) c.338C>A (p.Ala113Asp) n.806C>A n.522C>A c.45C>A c.101C>A (p.Ala34Asp) n.505C>A c.611C>A (p.Ala204Asp) | gnomAD v4 |
| 20 | g.63444670C>A | CA409654660 | KCNQ2 | c.679G>T (p.Ala227Ser) n.417G>T n.73G>T c.160G>T (p.Ala54Ser) c.337G>T (p.Ala113Ser) n.805G>T n.521G>T c.44G>T c.100G>T (p.Ala34Ser) n.504G>T c.610G>T (p.Ala204Ser) | gnomAD v4 |
| 20 | g.63444670C>G | CA409654661 | KCNQ2 | c.679G>C (p.Ala227Pro) n.417G>C n.73G>C c.160G>C (p.Ala54Pro) c.337G>C (p.Ala113Pro) n.805G>C n.521G>C c.44G>C c.100G>C (p.Ala34Pro) n.504G>C c.610G>C (p.Ala204Pro) | gnomAD v4 |
| 20 | g.63444670C>T | CA409654662 | KCNQ2 | c.679G>A (p.Ala227Thr) n.417G>A n.73G>A c.160G>A (p.Ala54Thr) c.337G>A (p.Ala113Thr) n.805G>A n.521G>A c.44G>A c.100G>A (p.Ala34Thr) n.504G>A c.610G>A (p.Ala204Thr) | gnomAD v4 |
| 20 | g.63444671A>C | CA409654663 | KCNQ2 | c.678T>G (p.Tyr226Ter) n.416T>G n.72T>G c.159T>G (p.Tyr53Ter) c.336T>G (p.Tyr112Ter) n.804T>G n.520T>G c.43T>G c.99T>G (p.Tyr33Ter) n.503T>G c.609T>G (p.Tyr203Ter) | |
| 20 | g.63444671A>G | CA511211166 | KCNQ2 | c.678T>C (p.Tyr226=) n.416T>C n.72T>C c.159T>C (p.Tyr53=) c.336T>C (p.Tyr112=) n.804T>C n.520T>C c.43T>C c.99T>C (p.Tyr33=) n.503T>C c.609T>C (p.Tyr203=) | |
| 20 | g.63444671A>T | CA409654664 | KCNQ2 | c.678T>A (p.Tyr226Ter) n.416T>A n.72T>A c.159T>A (p.Tyr53Ter) c.336T>A (p.Tyr112Ter) n.804T>A n.520T>A c.43T>A c.99T>A (p.Tyr33Ter) n.503T>A c.609T>A (p.Tyr203Ter) | |
| 20 | g.63444672_63444673dup | CA2695230089 | KCNQ2 | c.677_678dup (p.Ala227MetfsTer?) n.415_416dup n.71_72dup c.158_159dup (p.Ala54MetfsTer?) c.335_336dup (p.Ala113MetfsTer?) n.803_804dup n.519_520dup c.42_43dup c.98_99dup (p.Ala34MetfsTer?) n.502_503dup c.677_678dup (p.Ala227MetfsTer8) c.608_609dup (p.Ala204MetfsTer?) | |
| 20 | g.63444672T>A | CA409654665 | KCNQ2 | c.677A>T (p.Tyr226Phe) n.415A>T n.71A>T c.158A>T (p.Tyr53Phe) c.335A>T (p.Tyr112Phe) n.803A>T n.519A>T c.42A>T c.98A>T (p.Tyr33Phe) n.502A>T c.608A>T (p.Tyr203Phe) | |
| 20 | g.63444672T>C | CA317461722 | KCNQ2 | c.677A>G (p.Tyr226Cys) n.415A>G n.71A>G c.158A>G (p.Tyr53Cys) c.335A>G (p.Tyr112Cys) n.803A>G n.519A>G c.42A>G c.98A>G (p.Tyr33Cys) n.502A>G c.608A>G (p.Tyr203Cys) | dbSNP |
| 20 | g.63444672T>G | CA409654666 | KCNQ2 | c.677A>C (p.Tyr226Ser) n.415A>C n.71A>C c.158A>C (p.Tyr53Ser) c.335A>C (p.Tyr112Ser) n.803A>C n.519A>C c.42A>C c.98A>C (p.Tyr33Ser) n.502A>C c.608A>C (p.Tyr203Ser) | |
| 20 | g.63444672T= | CA2374795865 | KCNQ2 | c.677A= (p.Tyr226=) n.415A= n.71A= c.158A= (p.Tyr53=) c.335A= (p.Tyr112=) n.803A= n.519A= c.42A= c.98A= (p.Tyr33=) n.502A= c.608A= (p.Tyr203=) | |
| 20 | g.63444673A>C | CA409654668 | KCNQ2 | c.676T>G (p.Tyr226Asp) n.414T>G n.70T>G c.157T>G (p.Tyr53Asp) c.334T>G (p.Tyr112Asp) n.802T>G n.518T>G c.41T>G c.97T>G (p.Tyr33Asp) n.501T>G c.607T>G (p.Tyr203Asp) | |
| 20 | g.63444673A>G | CA409654669 | KCNQ2 | c.676T>C (p.Tyr226His) n.414T>C n.70T>C c.157T>C (p.Tyr53His) c.334T>C (p.Tyr112His) n.802T>C n.518T>C c.41T>C c.97T>C (p.Tyr33His) n.501T>C c.607T>C (p.Tyr203His) | gnomAD v4 |
| 20 | g.63444673A>T | CA409654667 | KCNQ2 | c.676T>A (p.Tyr226Asn) n.414T>A n.70T>A c.157T>A (p.Tyr53Asn) c.334T>A (p.Tyr112Asn) n.802T>A n.518T>A c.41T>A c.97T>A (p.Tyr33Asn) n.501T>A c.607T>A (p.Tyr203Asn) | |
| 20 | g.63444674G>A | CA511211175 | KCNQ2 | c.675C>T (p.Val225=) n.413C>T n.69C>T c.156C>T (p.Val52=) c.333C>T (p.Val111=) n.801C>T n.517C>T c.40C>T c.96C>T (p.Val32=) n.500C>T c.606C>T (p.Val202=) | |
| 20 | g.63444674G>C | CA511211176 | KCNQ2 | c.675C>G (p.Val225=) n.413C>G n.69C>G c.156C>G (p.Val52=) c.333C>G (p.Val111=) n.801C>G n.517C>G c.40C>G c.96C>G (p.Val32=) n.500C>G c.606C>G (p.Val202=) | COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444674G>T | CA511211178 | KCNQ2 | c.675C>A (p.Val225=) n.413C>A n.69C>A c.156C>A (p.Val52=) c.333C>A (p.Val111=) n.801C>A n.517C>A c.40C>A c.96C>A (p.Val32=) n.500C>A c.606C>A (p.Val202=) | gnomAD v4 |
| 20 | g.63444675A>C | CA409654672 | KCNQ2 | c.674T>G (p.Val225Gly) n.412T>G n.68T>G c.155T>G (p.Val52Gly) c.332T>G (p.Val111Gly) n.800T>G n.516T>G c.39T>G c.95T>G (p.Val32Gly) n.499T>G c.605T>G (p.Val202Gly) | |
| 20 | g.63444675A>G | CA409654670 | KCNQ2 | c.674T>C (p.Val225Ala) n.412T>C n.68T>C c.155T>C (p.Val52Ala) c.332T>C (p.Val111Ala) n.800T>C n.516T>C c.39T>C c.95T>C (p.Val32Ala) n.499T>C c.605T>C (p.Val202Ala) | gnomAD v4 |
| 20 | g.63444675A>T | CA409654671 | KCNQ2 | c.674T>A (p.Val225Asp) n.412T>A n.68T>A c.155T>A (p.Val52Asp) c.332T>A (p.Val111Asp) n.800T>A n.516T>A c.39T>A c.95T>A (p.Val32Asp) n.499T>A c.605T>A (p.Val202Asp) | |
| 20 | g.63444676C>A | CA409654673 | KCNQ2 | c.673G>T (p.Val225Phe) n.411G>T n.67G>T c.154G>T (p.Val52Phe) c.331G>T (p.Val111Phe) n.799G>T n.515G>T c.38G>T c.94G>T (p.Val32Phe) n.498G>T c.604G>T (p.Val202Phe) | ClinVar |
| 20 | g.63444676C>G | CA409654674 | KCNQ2 | c.673G>C (p.Val225Leu) n.411G>C n.67G>C c.154G>C (p.Val52Leu) c.331G>C (p.Val111Leu) n.799G>C n.515G>C c.38G>C c.94G>C (p.Val32Leu) n.498G>C c.604G>C (p.Val202Leu) | |
| 20 | g.63444676C>T | CA409654675 | KCNQ2 | c.673G>A (p.Val225Ile) n.411G>A n.67G>A c.154G>A (p.Val52Ile) c.331G>A (p.Val111Ile) n.799G>A n.515G>A c.38G>A c.94G>A (p.Val32Ile) n.498G>A c.604G>A (p.Val202Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63444677C>A | CA511211183 | KCNQ2 | c.672G>T (p.Val224=) n.410G>T n.66G>T c.153G>T (p.Val51=) c.330G>T (p.Val110=) n.798G>T n.514G>T c.37G>T c.93G>T (p.Val31=) n.497G>T c.603G>T (p.Val201=) | gnomAD v4 |
| 20 | g.63444677C>G | CA511211184 | KCNQ2 | c.672G>C (p.Val224=) n.410G>C n.66G>C c.153G>C (p.Val51=) c.330G>C (p.Val110=) n.798G>C n.514G>C c.37G>C c.93G>C (p.Val31=) n.497G>C c.603G>C (p.Val201=) |