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 |
|---|---|---|---|---|---|
| 4 | g.113237027A>C | CA357916127 | ANK2 | c.575A>C (p.His192Pro) c.569A>C (p.His190Pro) n.661A>C n.731A>C n.631A>C n.965A>C n.872A>C n.660A>C n.594A>C n.536A>C n.654A>C n.558A>C c.524A>C (p.His175Pro) c.461A>C (p.His154Pro) c.440A>C (p.His147Pro) c.119A>C (p.His40Pro) c.413A>C (p.His138Pro) c.620A>C (p.His207Pro) c.506A>C (p.His169Pro) c.512A>C (p.His171Pro) | |
| 4 | g.113237027A>G | CA357916131 | ANK2 | c.575A>G (p.His192Arg) c.569A>G (p.His190Arg) n.661A>G n.731A>G n.631A>G n.965A>G n.872A>G n.660A>G n.594A>G n.536A>G n.654A>G n.558A>G c.524A>G (p.His175Arg) c.461A>G (p.His154Arg) c.440A>G (p.His147Arg) c.119A>G (p.His40Arg) c.413A>G (p.His138Arg) c.620A>G (p.His207Arg) c.506A>G (p.His169Arg) c.512A>G (p.His171Arg) | |
| 4 | g.113237027A>T | CA357916134 | ANK2 | c.575A>T (p.His192Leu) c.569A>T (p.His190Leu) n.661A>T n.731A>T n.631A>T n.965A>T n.872A>T n.660A>T n.594A>T n.536A>T n.654A>T n.558A>T c.524A>T (p.His175Leu) c.461A>T (p.His154Leu) c.440A>T (p.His147Leu) c.119A>T (p.His40Leu) c.413A>T (p.His138Leu) c.620A>T (p.His207Leu) c.506A>T (p.His169Leu) c.512A>T (p.His171Leu) | |
| 4 | g.113237028C>A | CA357916137 | ANK2 | c.576C>A (p.His192Gln) c.570C>A (p.His190Gln) n.662C>A n.732C>A n.632C>A n.966C>A n.873C>A n.661C>A n.595C>A n.537C>A n.655C>A n.559C>A c.525C>A (p.His175Gln) c.462C>A (p.His154Gln) c.441C>A (p.His147Gln) c.120C>A (p.His40Gln) c.414C>A (p.His138Gln) c.621C>A (p.His207Gln) c.507C>A (p.His169Gln) c.513C>A (p.His171Gln) | |
| 4 | g.113237028C>G | CA357916138 | ANK2 | c.576C>G (p.His192Gln) c.570C>G (p.His190Gln) n.662C>G n.732C>G n.632C>G n.966C>G n.873C>G n.661C>G n.595C>G n.537C>G n.655C>G n.559C>G c.525C>G (p.His175Gln) c.462C>G (p.His154Gln) c.441C>G (p.His147Gln) c.120C>G (p.His40Gln) c.414C>G (p.His138Gln) c.621C>G (p.His207Gln) c.507C>G (p.His169Gln) c.513C>G (p.His171Gln) | |
| 4 | g.113237028C>T | CA440828554 | ANK2 | c.576C>T (p.His192=) c.570C>T (p.His190=) n.662C>T n.732C>T n.632C>T n.966C>T n.873C>T n.661C>T n.595C>T n.537C>T n.655C>T n.559C>T c.525C>T (p.His175=) c.462C>T (p.His154=) c.441C>T (p.His147=) c.120C>T (p.His40=) c.414C>T (p.His138=) c.621C>T (p.His207=) c.507C>T (p.His169=) c.513C>T (p.His171=) | gnomAD v4 |
| 4 | g.113237029A>C | CA357916141 | ANK2 | c.577A>C (p.Asn193His) c.571A>C (p.Asn191His) n.663A>C n.733A>C n.633A>C n.967A>C n.874A>C n.662A>C n.596A>C n.538A>C n.656A>C n.560A>C c.526A>C (p.Asn176His) c.463A>C (p.Asn155His) c.442A>C (p.Asn148His) c.121A>C (p.Asn41His) c.415A>C (p.Asn139His) c.622A>C (p.Asn208His) c.508A>C (p.Asn170His) c.514A>C (p.Asn172His) | |
| 4 | g.113237029A>G | CA357916153 | ANK2 | c.577A>G (p.Asn193Asp) c.571A>G (p.Asn191Asp) n.663A>G n.733A>G n.633A>G n.967A>G n.874A>G n.662A>G n.596A>G n.538A>G n.656A>G n.560A>G c.526A>G (p.Asn176Asp) c.463A>G (p.Asn155Asp) c.442A>G (p.Asn148Asp) c.121A>G (p.Asn41Asp) c.415A>G (p.Asn139Asp) c.622A>G (p.Asn208Asp) c.508A>G (p.Asn170Asp) c.514A>G (p.Asn172Asp) | |
| 4 | g.113237029A>T | CA357916145 | ANK2 | c.577A>T (p.Asn193Tyr) c.571A>T (p.Asn191Tyr) n.663A>T n.733A>T n.633A>T n.967A>T n.874A>T n.662A>T n.596A>T n.538A>T n.656A>T n.560A>T c.526A>T (p.Asn176Tyr) c.463A>T (p.Asn155Tyr) c.442A>T (p.Asn148Tyr) c.121A>T (p.Asn41Tyr) c.415A>T (p.Asn139Tyr) c.622A>T (p.Asn208Tyr) c.508A>T (p.Asn170Tyr) c.514A>T (p.Asn172Tyr) | |
| 4 | g.113237030A>C | CA357916157 | ANK2 | c.578A>C (p.Asn193Thr) c.572A>C (p.Asn191Thr) n.664A>C n.734A>C n.634A>C n.968A>C n.875A>C n.663A>C n.597A>C n.539A>C n.657A>C n.561A>C c.527A>C (p.Asn176Thr) c.464A>C (p.Asn155Thr) c.443A>C (p.Asn148Thr) c.122A>C (p.Asn41Thr) c.416A>C (p.Asn139Thr) c.623A>C (p.Asn208Thr) c.509A>C (p.Asn170Thr) c.515A>C (p.Asn172Thr) | |
| 4 | g.113237030A>G | CA357916164 | ANK2 | c.578A>G (p.Asn193Ser) c.572A>G (p.Asn191Ser) n.664A>G n.734A>G n.634A>G n.968A>G n.875A>G n.663A>G n.597A>G n.539A>G n.657A>G n.561A>G c.527A>G (p.Asn176Ser) c.464A>G (p.Asn155Ser) c.443A>G (p.Asn148Ser) c.122A>G (p.Asn41Ser) c.416A>G (p.Asn139Ser) c.623A>G (p.Asn208Ser) c.509A>G (p.Asn170Ser) c.515A>G (p.Asn172Ser) | gnomAD v4 |
| 4 | g.113237030A>T | CA357916170 | ANK2 | c.578A>T (p.Asn193Ile) c.572A>T (p.Asn191Ile) n.664A>T n.734A>T n.634A>T n.968A>T n.875A>T n.663A>T n.597A>T n.539A>T n.657A>T n.561A>T c.527A>T (p.Asn176Ile) c.464A>T (p.Asn155Ile) c.443A>T (p.Asn148Ile) c.122A>T (p.Asn41Ile) c.416A>T (p.Asn139Ile) c.623A>T (p.Asn208Ile) c.509A>T (p.Asn170Ile) c.515A>T (p.Asn172Ile) | |
| 4 | g.113237031C>A | CA357916182 | ANK2 | c.579C>A (p.Asn193Lys) c.573C>A (p.Asn191Lys) n.665C>A n.735C>A n.635C>A n.969C>A n.876C>A n.664C>A n.598C>A n.540C>A n.658C>A n.562C>A c.528C>A (p.Asn176Lys) c.465C>A (p.Asn155Lys) c.444C>A (p.Asn148Lys) c.123C>A (p.Asn41Lys) c.417C>A (p.Asn139Lys) c.624C>A (p.Asn208Lys) c.510C>A (p.Asn170Lys) c.516C>A (p.Asn172Lys) | COSMIC COSMIC |
| 4 | g.113237031C>G | CA357916186 | ANK2 | c.579C>G (p.Asn193Lys) c.573C>G (p.Asn191Lys) n.665C>G n.735C>G n.635C>G n.969C>G n.876C>G n.664C>G n.598C>G n.540C>G n.658C>G n.562C>G c.528C>G (p.Asn176Lys) c.465C>G (p.Asn155Lys) c.444C>G (p.Asn148Lys) c.123C>G (p.Asn41Lys) c.417C>G (p.Asn139Lys) c.624C>G (p.Asn208Lys) c.510C>G (p.Asn170Lys) c.516C>G (p.Asn172Lys) | |
| 4 | g.113237031C>T | CA440828567 | ANK2 | c.579C>T (p.Asn193=) c.573C>T (p.Asn191=) n.665C>T n.735C>T n.635C>T n.969C>T n.876C>T n.664C>T n.598C>T n.540C>T n.658C>T n.562C>T c.528C>T (p.Asn176=) c.465C>T (p.Asn155=) c.444C>T (p.Asn148=) c.123C>T (p.Asn41=) c.417C>T (p.Asn139=) c.624C>T (p.Asn208=) c.510C>T (p.Asn170=) c.516C>T (p.Asn172=) | |
| 4 | g.113237032C>A | CA357916192 | ANK2 | c.580C>A (p.Gln194Lys) c.574C>A (p.Gln192Lys) n.666C>A n.736C>A n.636C>A n.970C>A n.877C>A n.665C>A n.599C>A n.541C>A n.659C>A n.563C>A c.529C>A (p.Gln177Lys) c.466C>A (p.Gln156Lys) c.445C>A (p.Gln149Lys) c.124C>A (p.Gln42Lys) c.418C>A (p.Gln140Lys) c.625C>A (p.Gln209Lys) c.511C>A (p.Gln171Lys) c.517C>A (p.Gln173Lys) | |
| 4 | g.113237032C>G | CA357916198 | ANK2 | c.580C>G (p.Gln194Glu) c.574C>G (p.Gln192Glu) n.666C>G n.736C>G n.636C>G n.970C>G n.877C>G n.665C>G n.599C>G n.541C>G n.659C>G n.563C>G c.529C>G (p.Gln177Glu) c.466C>G (p.Gln156Glu) c.445C>G (p.Gln149Glu) c.124C>G (p.Gln42Glu) c.418C>G (p.Gln140Glu) c.625C>G (p.Gln209Glu) c.511C>G (p.Gln171Glu) c.517C>G (p.Gln173Glu) | |
| 4 | g.113237032C>T | CA357916200 | ANK2 | c.580C>T (p.Gln194Ter) c.574C>T (p.Gln192Ter) n.666C>T n.736C>T n.636C>T n.970C>T n.877C>T n.665C>T n.599C>T n.541C>T n.659C>T n.563C>T c.529C>T (p.Gln177Ter) c.466C>T (p.Gln156Ter) c.445C>T (p.Gln149Ter) c.124C>T (p.Gln42Ter) c.418C>T (p.Gln140Ter) c.625C>T (p.Gln209Ter) c.511C>T (p.Gln171Ter) c.517C>T (p.Gln173Ter) | |
| 4 | g.113237033A>C | CA357916203 | ANK2 | c.581A>C (p.Gln194Pro) c.575A>C (p.Gln192Pro) n.667A>C n.737A>C n.637A>C n.971A>C n.878A>C n.666A>C n.600A>C n.542A>C n.660A>C n.564A>C c.530A>C (p.Gln177Pro) c.467A>C (p.Gln156Pro) c.446A>C (p.Gln149Pro) c.125A>C (p.Gln42Pro) c.419A>C (p.Gln140Pro) c.626A>C (p.Gln209Pro) c.512A>C (p.Gln171Pro) c.518A>C (p.Gln173Pro) | |
| 4 | g.113237033A>G | CA357916205 | ANK2 | c.581A>G (p.Gln194Arg) c.575A>G (p.Gln192Arg) n.667A>G n.737A>G n.637A>G n.971A>G n.878A>G n.666A>G n.600A>G n.542A>G n.660A>G n.564A>G c.530A>G (p.Gln177Arg) c.467A>G (p.Gln156Arg) c.446A>G (p.Gln149Arg) c.125A>G (p.Gln42Arg) c.419A>G (p.Gln140Arg) c.626A>G (p.Gln209Arg) c.512A>G (p.Gln171Arg) c.518A>G (p.Gln173Arg) | |
| 4 | g.113237033A>T | CA357916206 | ANK2 | c.581A>T (p.Gln194Leu) c.575A>T (p.Gln192Leu) n.667A>T n.737A>T n.637A>T n.971A>T n.878A>T n.666A>T n.600A>T n.542A>T n.660A>T n.564A>T c.530A>T (p.Gln177Leu) c.467A>T (p.Gln156Leu) c.446A>T (p.Gln149Leu) c.125A>T (p.Gln42Leu) c.419A>T (p.Gln140Leu) c.626A>T (p.Gln209Leu) c.512A>T (p.Gln171Leu) c.518A>T (p.Gln173Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.113237034G>A | CA440828577 | ANK2 | c.582G>A (p.Gln194=) c.576G>A (p.Gln192=) n.668G>A n.738G>A n.638G>A n.972G>A n.879G>A n.667G>A n.601G>A n.543G>A n.661G>A n.565G>A c.531G>A (p.Gln177=) c.468G>A (p.Gln156=) c.447G>A (p.Gln149=) c.126G>A (p.Gln42=) c.420G>A (p.Gln140=) c.627G>A (p.Gln209=) c.513G>A (p.Gln171=) c.519G>A (p.Gln173=) | |
| 4 | g.113237034G>C | CA357916208 | ANK2 | c.582G>C (p.Gln194His) c.576G>C (p.Gln192His) n.668G>C n.738G>C n.638G>C n.972G>C n.879G>C n.667G>C n.601G>C n.543G>C n.661G>C n.565G>C c.531G>C (p.Gln177His) c.468G>C (p.Gln156His) c.447G>C (p.Gln149His) c.126G>C (p.Gln42His) c.420G>C (p.Gln140His) c.627G>C (p.Gln209His) c.513G>C (p.Gln171His) c.519G>C (p.Gln173His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113237034G>T | CA357916213 | ANK2 | c.582G>T (p.Gln194His) c.576G>T (p.Gln192His) n.668G>T n.738G>T n.638G>T n.972G>T n.879G>T n.667G>T n.601G>T n.543G>T n.661G>T n.565G>T c.531G>T (p.Gln177His) c.468G>T (p.Gln156His) c.447G>T (p.Gln149His) c.126G>T (p.Gln42His) c.420G>T (p.Gln140His) c.627G>T (p.Gln209His) c.513G>T (p.Gln171His) c.519G>T (p.Gln173His) | |
| 4 | g.113237035G>A | CA357916216 | ANK2 | c.583G>A (p.Ala195Thr) c.577G>A (p.Ala193Thr) n.669G>A n.739G>A n.639G>A n.973G>A n.880G>A n.668G>A n.602G>A n.544G>A n.662G>A n.566G>A c.532G>A (p.Ala178Thr) c.469G>A (p.Ala157Thr) c.448G>A (p.Ala150Thr) c.127G>A (p.Ala43Thr) c.421G>A (p.Ala141Thr) c.628G>A (p.Ala210Thr) c.514G>A (p.Ala172Thr) c.520G>A (p.Ala174Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.113237035G>C | CA357916215 | ANK2 | c.583G>C (p.Ala195Pro) c.577G>C (p.Ala193Pro) n.669G>C n.739G>C n.639G>C n.973G>C n.880G>C n.668G>C n.602G>C n.544G>C n.662G>C n.566G>C c.532G>C (p.Ala178Pro) c.469G>C (p.Ala157Pro) c.448G>C (p.Ala150Pro) c.127G>C (p.Ala43Pro) c.421G>C (p.Ala141Pro) c.628G>C (p.Ala210Pro) c.514G>C (p.Ala172Pro) c.520G>C (p.Ala174Pro) | |
| 4 | g.113237035G>T | CA103795811 | ANK2 | c.583G>T (p.Ala195Ser) c.577G>T (p.Ala193Ser) n.669G>T n.739G>T n.639G>T n.973G>T n.880G>T n.668G>T n.602G>T n.544G>T n.662G>T n.566G>T c.532G>T (p.Ala178Ser) c.469G>T (p.Ala157Ser) c.448G>T (p.Ala150Ser) c.127G>T (p.Ala43Ser) c.421G>T (p.Ala141Ser) c.628G>T (p.Ala210Ser) c.514G>T (p.Ala172Ser) c.520G>T (p.Ala174Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113237036C>A | CA357916218 | ANK2 | c.584C>A (p.Ala195Glu) c.578C>A (p.Ala193Glu) n.670C>A n.740C>A n.640C>A n.974C>A n.881C>A n.669C>A n.603C>A n.545C>A n.663C>A n.567C>A c.533C>A (p.Ala178Glu) c.470C>A (p.Ala157Glu) c.449C>A (p.Ala150Glu) c.128C>A (p.Ala43Glu) c.422C>A (p.Ala141Glu) c.629C>A (p.Ala210Glu) c.515C>A (p.Ala172Glu) c.521C>A (p.Ala174Glu) | COSMIC |
| 4 | g.113237036C>G | CA357916220 | ANK2 | c.584C>G (p.Ala195Gly) c.578C>G (p.Ala193Gly) n.670C>G n.740C>G n.640C>G n.974C>G n.881C>G n.669C>G n.603C>G n.545C>G n.663C>G n.567C>G c.533C>G (p.Ala178Gly) c.470C>G (p.Ala157Gly) c.449C>G (p.Ala150Gly) c.128C>G (p.Ala43Gly) c.422C>G (p.Ala141Gly) c.629C>G (p.Ala210Gly) c.515C>G (p.Ala172Gly) c.521C>G (p.Ala174Gly) | |
| 4 | g.113237036C>T | CA103795813 | ANK2 | c.584C>T (p.Ala195Val) c.578C>T (p.Ala193Val) n.670C>T n.740C>T n.640C>T n.974C>T n.881C>T n.669C>T n.603C>T n.545C>T n.663C>T n.567C>T c.533C>T (p.Ala178Val) c.470C>T (p.Ala157Val) c.449C>T (p.Ala150Val) c.128C>T (p.Ala43Val) c.422C>T (p.Ala141Val) c.629C>T (p.Ala210Val) c.515C>T (p.Ala172Val) c.521C>T (p.Ala174Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.113237037G>A | CA3050052 | ANK2 | c.585G>A (p.Ala195=) c.579G>A (p.Ala193=) n.671G>A n.741G>A n.641G>A n.975G>A n.882G>A n.670G>A n.604G>A n.546G>A n.664G>A n.568G>A c.534G>A (p.Ala178=) c.471G>A (p.Ala157=) c.450G>A (p.Ala150=) c.129G>A (p.Ala43=) c.423G>A (p.Ala141=) c.630G>A (p.Ala210=) c.516G>A (p.Ala172=) c.522G>A (p.Ala174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113237037G>C | CA440828593 | ANK2 | c.585G>C (p.Ala195=) c.579G>C (p.Ala193=) n.671G>C n.741G>C n.641G>C n.975G>C n.882G>C n.670G>C n.604G>C n.546G>C n.664G>C n.568G>C c.534G>C (p.Ala178=) c.471G>C (p.Ala157=) c.450G>C (p.Ala150=) c.129G>C (p.Ala43=) c.423G>C (p.Ala141=) c.630G>C (p.Ala210=) c.516G>C (p.Ala172=) c.522G>C (p.Ala174=) | |
| 4 | g.113237037G>T | CA440828590 | ANK2 | c.585G>T (p.Ala195=) c.579G>T (p.Ala193=) n.671G>T n.741G>T n.641G>T n.975G>T n.882G>T n.670G>T n.604G>T n.546G>T n.664G>T n.568G>T c.534G>T (p.Ala178=) c.471G>T (p.Ala157=) c.450G>T (p.Ala150=) c.129G>T (p.Ala43=) c.423G>T (p.Ala141=) c.630G>T (p.Ala210=) c.516G>T (p.Ala172=) c.522G>T (p.Ala174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.113237038G>A | CA357916226 | ANK2 | c.586G>A (p.Val196Met) c.580G>A (p.Val194Met) n.672G>A n.742G>A n.642G>A n.976G>A n.883G>A n.671G>A n.605G>A n.547G>A n.665G>A n.569G>A c.535G>A (p.Val179Met) c.472G>A (p.Val158Met) c.451G>A (p.Val151Met) c.130G>A (p.Val44Met) c.424G>A (p.Val142Met) c.631G>A (p.Val211Met) c.517G>A (p.Val173Met) c.523G>A (p.Val175Met) | dbSNP |
| 4 | g.113237038G>C | CA357916228 | ANK2 | c.586G>C (p.Val196Leu) c.580G>C (p.Val194Leu) n.672G>C n.742G>C n.642G>C n.976G>C n.883G>C n.671G>C n.605G>C n.547G>C n.665G>C n.569G>C c.535G>C (p.Val179Leu) c.472G>C (p.Val158Leu) c.451G>C (p.Val151Leu) c.130G>C (p.Val44Leu) c.424G>C (p.Val142Leu) c.631G>C (p.Val211Leu) c.517G>C (p.Val173Leu) c.523G>C (p.Val175Leu) | gnomAD v4 |
| 4 | g.113237038G>T | CA357916229 | ANK2 | c.586G>T (p.Val196Leu) c.580G>T (p.Val194Leu) n.672G>T n.742G>T n.642G>T n.976G>T n.883G>T n.671G>T n.605G>T n.547G>T n.665G>T n.569G>T c.535G>T (p.Val179Leu) c.472G>T (p.Val158Leu) c.451G>T (p.Val151Leu) c.130G>T (p.Val44Leu) c.424G>T (p.Val142Leu) c.631G>T (p.Val211Leu) c.517G>T (p.Val173Leu) c.523G>T (p.Val175Leu) | |
| 4 | g.113237039del | CA2671816346 | ANK2 | c.587del (p.Val196GlyfsTer13) c.581del (p.Val194GlyfsTer13) n.673del n.743del n.643del n.977del n.884del n.672del n.606del n.548del n.666del n.570del c.536del (p.Val179GlyfsTer13) c.473del (p.Val158GlyfsTer13) c.452del (p.Val151GlyfsTer13) c.131del (p.Val44GlyfsTer13) c.425del (p.Val142GlyfsTer13) c.632del (p.Val211GlyfsTer13) c.518del (p.Val173GlyfsTer13) c.524del (p.Val175GlyfsTer13) | gnomAD v4 |
| 4 | g.113237039T>A | CA357916232 | ANK2 | c.587T>A (p.Val196Glu) c.581T>A (p.Val194Glu) n.673T>A n.743T>A n.643T>A n.977T>A n.884T>A n.672T>A n.606T>A n.548T>A n.666T>A n.570T>A c.536T>A (p.Val179Glu) c.473T>A (p.Val158Glu) c.452T>A (p.Val151Glu) c.131T>A (p.Val44Glu) c.425T>A (p.Val142Glu) c.632T>A (p.Val211Glu) c.518T>A (p.Val173Glu) c.524T>A (p.Val175Glu) | |
| 4 | g.113237039T>C | CA357916239 | ANK2 | c.587T>C (p.Val196Ala) c.581T>C (p.Val194Ala) n.673T>C n.743T>C n.643T>C n.977T>C n.884T>C n.672T>C n.606T>C n.548T>C n.666T>C n.570T>C c.536T>C (p.Val179Ala) c.473T>C (p.Val158Ala) c.452T>C (p.Val151Ala) c.131T>C (p.Val44Ala) c.425T>C (p.Val142Ala) c.632T>C (p.Val211Ala) c.518T>C (p.Val173Ala) c.524T>C (p.Val175Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.113237039T>G | CA357916241 | ANK2 | c.587T>G (p.Val196Gly) c.581T>G (p.Val194Gly) n.673T>G n.743T>G n.643T>G n.977T>G n.884T>G n.672T>G n.606T>G n.548T>G n.666T>G n.570T>G c.536T>G (p.Val179Gly) c.473T>G (p.Val158Gly) c.452T>G (p.Val151Gly) c.131T>G (p.Val44Gly) c.425T>G (p.Val142Gly) c.632T>G (p.Val211Gly) c.518T>G (p.Val173Gly) c.524T>G (p.Val175Gly) | |
| 4 | g.113237040G>A | CA440828598 | ANK2 | c.588G>A (p.Val196=) c.582G>A (p.Val194=) n.674G>A n.744G>A n.644G>A n.978G>A n.885G>A n.673G>A n.607G>A n.549G>A n.667G>A n.571G>A c.537G>A (p.Val179=) c.474G>A (p.Val158=) c.453G>A (p.Val151=) c.132G>A (p.Val44=) c.426G>A (p.Val142=) c.633G>A (p.Val211=) c.519G>A (p.Val173=) c.525G>A (p.Val175=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113237040G>C | CA440828599 | ANK2 | c.588G>C (p.Val196=) c.582G>C (p.Val194=) n.674G>C n.744G>C n.644G>C n.978G>C n.885G>C n.673G>C n.607G>C n.549G>C n.667G>C n.571G>C c.537G>C (p.Val179=) c.474G>C (p.Val158=) c.453G>C (p.Val151=) c.132G>C (p.Val44=) c.426G>C (p.Val142=) c.633G>C (p.Val211=) c.519G>C (p.Val173=) c.525G>C (p.Val175=) | COSMIC |
| 4 | g.113237040G>T | CA440828600 | ANK2 | c.588G>T (p.Val196=) c.582G>T (p.Val194=) n.674G>T n.744G>T n.644G>T n.978G>T n.885G>T n.673G>T n.607G>T n.549G>T n.667G>T n.571G>T c.537G>T (p.Val179=) c.474G>T (p.Val158=) c.453G>T (p.Val151=) c.132G>T (p.Val44=) c.426G>T (p.Val142=) c.633G>T (p.Val211=) c.519G>T (p.Val173=) c.525G>T (p.Val175=) | |
| 4 | g.113237041G>A | CA357916247 | ANK2 | c.589G>A (p.Ala197Thr) c.583G>A (p.Ala195Thr) n.675G>A n.745G>A n.645G>A n.979G>A n.886G>A n.674G>A n.608G>A n.550G>A n.668G>A n.572G>A c.538G>A (p.Ala180Thr) c.475G>A (p.Ala159Thr) c.454G>A (p.Ala152Thr) c.133G>A (p.Ala45Thr) c.427G>A (p.Ala143Thr) c.634G>A (p.Ala212Thr) c.520G>A (p.Ala174Thr) c.526G>A (p.Ala176Thr) | dbSNP |
| 4 | g.113237041G>C | CA357916249 | ANK2 | c.589G>C (p.Ala197Pro) c.583G>C (p.Ala195Pro) n.675G>C n.745G>C n.645G>C n.979G>C n.886G>C n.674G>C n.608G>C n.550G>C n.668G>C n.572G>C c.538G>C (p.Ala180Pro) c.475G>C (p.Ala159Pro) c.454G>C (p.Ala152Pro) c.133G>C (p.Ala45Pro) c.427G>C (p.Ala143Pro) c.634G>C (p.Ala212Pro) c.520G>C (p.Ala174Pro) c.526G>C (p.Ala176Pro) | |
| 4 | g.113237041G>T | CA357916251 | ANK2 | c.589G>T (p.Ala197Ser) c.583G>T (p.Ala195Ser) n.675G>T n.745G>T n.645G>T n.979G>T n.886G>T n.674G>T n.608G>T n.550G>T n.668G>T n.572G>T c.538G>T (p.Ala180Ser) c.475G>T (p.Ala159Ser) c.454G>T (p.Ala152Ser) c.133G>T (p.Ala45Ser) c.427G>T (p.Ala143Ser) c.634G>T (p.Ala212Ser) c.520G>T (p.Ala174Ser) c.526G>T (p.Ala176Ser) | COSMIC |
| 4 | g.113237042C>A | CA357916257 | ANK2 | c.590C>A (p.Ala197Asp) c.584C>A (p.Ala195Asp) n.676C>A n.746C>A n.646C>A n.980C>A n.887C>A n.675C>A n.609C>A n.551C>A n.669C>A n.573C>A c.539C>A (p.Ala180Asp) c.476C>A (p.Ala159Asp) c.455C>A (p.Ala152Asp) c.134C>A (p.Ala45Asp) c.428C>A (p.Ala143Asp) c.635C>A (p.Ala212Asp) c.521C>A (p.Ala174Asp) c.527C>A (p.Ala176Asp) | |
| 4 | g.113237042C>G | CA357916259 | ANK2 | c.590C>G (p.Ala197Gly) c.584C>G (p.Ala195Gly) n.676C>G n.746C>G n.646C>G n.980C>G n.887C>G n.675C>G n.609C>G n.551C>G n.669C>G n.573C>G c.539C>G (p.Ala180Gly) c.476C>G (p.Ala159Gly) c.455C>G (p.Ala152Gly) c.134C>G (p.Ala45Gly) c.428C>G (p.Ala143Gly) c.635C>G (p.Ala212Gly) c.521C>G (p.Ala174Gly) c.527C>G (p.Ala176Gly) | |
| 4 | g.113237042C>T | CA357916254 | ANK2 | c.590C>T (p.Ala197Val) c.584C>T (p.Ala195Val) n.676C>T n.746C>T n.646C>T n.980C>T n.887C>T n.675C>T n.609C>T n.551C>T n.669C>T n.573C>T c.539C>T (p.Ala180Val) c.476C>T (p.Ala159Val) c.455C>T (p.Ala152Val) c.134C>T (p.Ala45Val) c.428C>T (p.Ala143Val) c.635C>T (p.Ala212Val) c.521C>T (p.Ala174Val) c.527C>T (p.Ala176Val) | |
| 4 | g.113237043C>A | CA440828615 | ANK2 | c.591C>A (p.Ala197=) c.585C>A (p.Ala195=) n.677C>A n.747C>A n.647C>A n.981C>A n.888C>A n.676C>A n.610C>A n.552C>A n.670C>A n.574C>A c.540C>A (p.Ala180=) c.477C>A (p.Ala159=) c.456C>A (p.Ala152=) c.135C>A (p.Ala45=) c.429C>A (p.Ala143=) c.636C>A (p.Ala212=) c.522C>A (p.Ala174=) c.528C>A (p.Ala176=) |