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 |
|---|---|---|---|---|---|
| 8 | g.102208140T>A | CA371585184 | RRM2B | c.1049A>T (p.Asp350Val) n.436A>T c.893A>T (p.Asp298Val) c.413A>T (p.Asp138Val) c.194A>T (p.Asp65Val) c.1218A>T c.382A>T (n.382A>T) c.887A>T (p.Asp296Val) c.1265A>T (p.Asp422Val) | |
| 8 | g.102208140T>C | CA371585185 | RRM2B | c.1049A>G (p.Asp350Gly) n.436A>G c.893A>G (p.Asp298Gly) c.413A>G (p.Asp138Gly) c.194A>G (p.Asp65Gly) c.1218A>G c.382A>G (n.382A>G) c.887A>G (p.Asp296Gly) c.1265A>G (p.Asp422Gly) | |
| 8 | g.102208140T>G | CA371585186 | RRM2B | c.1049A>C (p.Asp350Ala) n.436A>C c.893A>C (p.Asp298Ala) c.413A>C (p.Asp138Ala) c.194A>C (p.Asp65Ala) c.1218A>C c.382A>C (n.382A>C) c.887A>C (p.Asp296Ala) c.1265A>C (p.Asp422Ala) | |
| 8 | g.102208141C>A | CA371585187 | RRM2B | c.1048G>T (p.Asp350Tyr) n.435G>T c.892G>T (p.Asp298Tyr) c.412G>T (p.Asp138Tyr) c.193G>T (p.Asp65Tyr) c.1217G>T c.381G>T (n.381G>T) c.886G>T (p.Asp296Tyr) c.1264G>T (p.Asp422Tyr) | |
| 8 | g.102208141C>G | CA371585188 | RRM2B | c.1048G>C (p.Asp350His) n.435G>C c.892G>C (p.Asp298His) c.412G>C (p.Asp138His) c.193G>C (p.Asp65His) c.1217G>C c.381G>C (n.381G>C) c.886G>C (p.Asp296His) c.1264G>C (p.Asp422His) | |
| 8 | g.102208141C>T | CA371585189 | RRM2B | c.1048G>A (p.Asp350Asn) n.435G>A c.892G>A (p.Asp298Asn) c.412G>A (p.Asp138Asn) c.193G>A (p.Asp65Asn) c.1217G>A c.381G>A (n.381G>A) c.886G>A (p.Asp296Asn) c.1264G>A (p.Asp422Asn) | |
| 8 | g.102208142T>A | CA462123655 | RRM2B | c.1047A>T (p.Ala349=) n.434A>T c.891A>T (p.Ala297=) c.411A>T (p.Ala137=) c.192A>T (p.Ala64=) c.1216A>T c.380A>T (n.380A>T) c.885A>T (p.Ala295=) c.1263A>T (p.Ala421=) | |
| 8 | g.102208142T>C | CA462123657 | RRM2B | c.1047A>G (p.Ala349=) n.434A>G c.891A>G (p.Ala297=) c.411A>G (p.Ala137=) c.192A>G (p.Ala64=) c.1216A>G c.380A>G (n.380A>G) c.885A>G (p.Ala295=) c.1263A>G (p.Ala421=) | |
| 8 | g.102208142T>G | CA462123656 | RRM2B | c.1047A>C (p.Ala349=) n.434A>C c.891A>C (p.Ala297=) c.411A>C (p.Ala137=) c.192A>C (p.Ala64=) c.1216A>C c.380A>C (n.380A>C) c.885A>C (p.Ala295=) c.1263A>C (p.Ala421=) | |
| 8 | g.102208143G>A | CA371585190 | RRM2B | c.1046C>T (p.Ala349Val) n.433C>T c.890C>T (p.Ala297Val) c.410C>T (p.Ala137Val) c.191C>T (p.Ala64Val) c.1215C>T c.379C>T (n.379C>T) c.884C>T (p.Ala295Val) c.1262C>T (p.Ala421Val) | COSMIC |
| 8 | g.102208143G>C | CA345627 | RRM2B | c.1046C>G (p.Ala349Gly) n.433C>G c.890C>G (p.Ala297Gly) c.410C>G (p.Ala137Gly) c.191C>G (p.Ala64Gly) c.1215C>G c.379C>G (n.379C>G) c.884C>G (p.Ala295Gly) c.1262C>G (p.Ala421Gly) | ClinVar dbSNP |
| 8 | g.102208143G= | CA1806674661 | RRM2B | c.1046C= (p.Ala349=) n.433C= c.890C= (p.Ala297=) c.410C= (p.Ala137=) c.191C= (p.Ala64=) c.1215C= c.379C= (n.379C=) c.884C= (p.Ala295=) c.1262C= (p.Ala421=) | |
| 8 | g.102208143G>T | CA371585192 | RRM2B | c.1046C>A (p.Ala349Glu) n.433C>A c.890C>A (p.Ala297Glu) c.410C>A (p.Ala137Glu) c.191C>A (p.Ala64Glu) c.1215C>A c.379C>A (n.379C>A) c.884C>A (p.Ala295Glu) c.1262C>A (p.Ala421Glu) | COSMIC |
| 8 | g.102208144C>A | CA371585194 | RRM2B | c.1045G>T (p.Ala349Ser) n.432G>T c.889G>T (p.Ala297Ser) c.409G>T (p.Ala137Ser) c.190G>T (p.Ala64Ser) c.1214G>T c.378G>T (n.378G>T) c.883G>T (p.Ala295Ser) c.1261G>T (p.Ala421Ser) | |
| 8 | g.102208144C>G | CA371585195 | RRM2B | c.1045G>C (p.Ala349Pro) n.432G>C c.889G>C (p.Ala297Pro) c.409G>C (p.Ala137Pro) c.190G>C (p.Ala64Pro) c.1214G>C c.378G>C (n.378G>C) c.883G>C (p.Ala295Pro) c.1261G>C (p.Ala421Pro) | |
| 8 | g.102208144C>T | CA371585199 | RRM2B | c.1045G>A (p.Ala349Thr) n.432G>A c.889G>A (p.Ala297Thr) c.409G>A (p.Ala137Thr) c.190G>A (p.Ala64Thr) c.1214G>A c.378G>A (n.378G>A) c.883G>A (p.Ala295Thr) c.1261G>A (p.Ala421Thr) | |
| 8 | g.102208145A>C | CA371585202 | RRM2B | c.1044T>G (p.Asp348Glu) n.431T>G c.888T>G (p.Asp296Glu) c.408T>G (p.Asp136Glu) c.189T>G (p.Asp63Glu) c.1213T>G c.377T>G (n.377T>G) c.882T>G (p.Asp294Glu) c.1260T>G (p.Asp420Glu) | gnomAD v4 |
| 8 | g.102208145A>G | CA462123659 | RRM2B | c.1044T>C (p.Asp348=) n.431T>C c.888T>C (p.Asp296=) c.408T>C (p.Asp136=) c.189T>C (p.Asp63=) c.1213T>C c.377T>C (n.377T>C) c.882T>C (p.Asp294=) c.1260T>C (p.Asp420=) | gnomAD v4 |
| 8 | g.102208145A>T | CA371585204 | RRM2B | c.1044T>A (p.Asp348Glu) n.431T>A c.888T>A (p.Asp296Glu) c.408T>A (p.Asp136Glu) c.189T>A (p.Asp63Glu) c.1213T>A c.377T>A (n.377T>A) c.882T>A (p.Asp294Glu) c.1260T>A (p.Asp420Glu) | |
| 8 | g.102208146T>A | CA371585206 | RRM2B | c.1043A>T (p.Asp348Val) n.430A>T c.887A>T (p.Asp296Val) c.407A>T (p.Asp136Val) c.188A>T (p.Asp63Val) c.1212A>T c.376A>T (n.376A>T) c.881A>T (p.Asp294Val) c.1259A>T (p.Asp420Val) | |
| 8 | g.102208146T>C | CA371585208 | RRM2B | c.1043A>G (p.Asp348Gly) n.430A>G c.887A>G (p.Asp296Gly) c.407A>G (p.Asp136Gly) c.188A>G (p.Asp63Gly) c.1212A>G c.376A>G (n.376A>G) c.881A>G (p.Asp294Gly) c.1259A>G (p.Asp420Gly) | |
| 8 | g.102208146T>G | CA371585209 | RRM2B | c.1043A>C (p.Asp348Ala) n.430A>C c.887A>C (p.Asp296Ala) c.407A>C (p.Asp136Ala) c.188A>C (p.Asp63Ala) c.1212A>C c.376A>C (n.376A>C) c.881A>C (p.Asp294Ala) c.1259A>C (p.Asp420Ala) | |
| 8 | g.102208147C>A | CA371585210 | RRM2B | c.1042G>T (p.Asp348Tyr) n.429G>T c.886G>T (p.Asp296Tyr) c.406G>T (p.Asp136Tyr) c.187G>T (p.Asp63Tyr) c.1211G>T c.375G>T (n.375G>T) c.880G>T (p.Asp294Tyr) c.1258G>T (p.Asp420Tyr) | |
| 8 | g.102208147C>G | CA371585211 | RRM2B | c.1042G>C (p.Asp348His) n.429G>C c.886G>C (p.Asp296His) c.406G>C (p.Asp136His) c.187G>C (p.Asp63His) c.1211G>C c.375G>C (n.375G>C) c.880G>C (p.Asp294His) c.1258G>C (p.Asp420His) | |
| 8 | g.102208147C>T | CA371585213 | RRM2B | c.1042G>A (p.Asp348Asn) n.429G>A c.886G>A (p.Asp296Asn) c.406G>A (p.Asp136Asn) c.187G>A (p.Asp63Asn) c.1211G>A c.375G>A (n.375G>A) c.880G>A (p.Asp294Asn) c.1258G>A (p.Asp420Asn) | |
| 8 | g.102208148C>A | CA371585215 | RRM2B | c.1041G>T (p.Leu347Phe) n.428G>T c.885G>T (p.Leu295Phe) c.405G>T (p.Leu135Phe) c.186G>T (p.Leu62Phe) c.1210G>T c.374G>T (n.374G>T) c.879G>T (p.Leu293Phe) c.1257G>T (p.Leu419Phe) | |
| 8 | g.102208148C>G | CA371585216 | RRM2B | c.1041G>C (p.Leu347Phe) n.428G>C c.885G>C (p.Leu295Phe) c.405G>C (p.Leu135Phe) c.186G>C (p.Leu62Phe) c.1210G>C c.374G>C (n.374G>C) c.879G>C (p.Leu293Phe) c.1257G>C (p.Leu419Phe) | |
| 8 | g.102208148C>T | CA462123661 | RRM2B | c.1041G>A (p.Leu347=) n.428G>A c.885G>A (p.Leu295=) c.405G>A (p.Leu135=) c.186G>A (p.Leu62=) c.1210G>A c.374G>A (n.374G>A) c.879G>A (p.Leu293=) c.1257G>A (p.Leu419=) | gnomAD v4 |
| 8 | g.102208149A>C | CA371585222 | RRM2B | c.1040T>G (p.Leu347Trp) n.427T>G c.884T>G (p.Leu295Trp) c.404T>G (p.Leu135Trp) c.185T>G (p.Leu62Trp) c.1209T>G c.373T>G (n.373T>G) c.878T>G (p.Leu293Trp) c.1256T>G (p.Leu419Trp) | ClinVar |
| 8 | g.102208149A>G | CA371585224 | RRM2B | c.1040T>C (p.Leu347Ser) n.427T>C c.884T>C (p.Leu295Ser) c.404T>C (p.Leu135Ser) c.185T>C (p.Leu62Ser) c.1209T>C c.373T>C (n.373T>C) c.878T>C (p.Leu293Ser) c.1256T>C (p.Leu419Ser) | |
| 8 | g.102208149A>T | CA371585226 | RRM2B | c.1040T>A (p.Leu347Ter) n.427T>A c.884T>A (p.Leu295Ter) c.404T>A (p.Leu135Ter) c.185T>A (p.Leu62Ter) c.1209T>A c.373T>A (n.373T>A) c.878T>A (p.Leu293Ter) c.1256T>A (p.Leu419Ter) | |
| 8 | g.102208150A>C | CA371585229 | RRM2B | c.1039T>G (p.Leu347Val) n.426T>G c.883T>G (p.Leu295Val) c.403T>G (p.Leu135Val) c.184T>G (p.Leu62Val) c.1208T>G c.372T>G (n.372T>G) c.877T>G (p.Leu293Val) c.1255T>G (p.Leu419Val) | |
| 8 | g.102208150A>G | CA462123665 | RRM2B | c.1039T>C (p.Leu347=) n.426T>C c.883T>C (p.Leu295=) c.403T>C (p.Leu135=) c.184T>C (p.Leu62=) c.1208T>C c.372T>C (n.372T>C) c.877T>C (p.Leu293=) c.1255T>C (p.Leu419=) | |
| 8 | g.102208150A>T | CA371585228 | RRM2B | c.1039T>A (p.Leu347Met) n.426T>A c.883T>A (p.Leu295Met) c.403T>A (p.Leu135Met) c.184T>A (p.Leu62Met) c.1208T>A c.372T>A (n.372T>A) c.877T>A (p.Leu293Met) c.1255T>A (p.Leu419Met) | |
| 8 | g.102208151G>A | CA462123666 | RRM2B | c.1038C>T (p.Thr346=) n.425C>T c.882C>T (p.Thr294=) c.402C>T (p.Thr134=) c.183C>T (p.Thr61=) c.1207C>T c.371C>T (n.371C>T) c.876C>T (p.Thr292=) c.1254C>T (p.Thr418=) | |
| 8 | g.102208151G>C | CA462123667 | RRM2B | c.1038C>G (p.Thr346=) n.425C>G c.882C>G (p.Thr294=) c.402C>G (p.Thr134=) c.183C>G (p.Thr61=) c.1207C>G c.371C>G (n.371C>G) c.876C>G (p.Thr292=) c.1254C>G (p.Thr418=) | dbSNP gnomAD v4 |
| 8 | g.102208151G= | CA1806674662 | RRM2B | c.1038C= (p.Thr346=) n.425C= c.882C= (p.Thr294=) c.402C= (p.Thr134=) c.183C= (p.Thr61=) c.1207C= c.371C= (n.371C=) c.876C= (p.Thr292=) c.1254C= (p.Thr418=) | |
| 8 | g.102208151G>T | CA462123668 | RRM2B | c.1038C>A (p.Thr346=) n.425C>A c.882C>A (p.Thr294=) c.402C>A (p.Thr134=) c.183C>A (p.Thr61=) c.1207C>A c.371C>A (n.371C>A) c.876C>A (p.Thr292=) c.1254C>A (p.Thr418=) | |
| 8 | g.102208152G>A | CA371585231 | RRM2B | c.1037C>T (p.Thr346Ile) n.424C>T c.881C>T (p.Thr294Ile) c.401C>T (p.Thr134Ile) c.182C>T (p.Thr61Ile) c.1206C>T c.370C>T (n.370C>T) c.875C>T (p.Thr292Ile) c.1253C>T (p.Thr418Ile) | gnomAD v4 |
| 8 | g.102208152G>C | CA371585233 | RRM2B | c.1037C>G (p.Thr346Ser) n.424C>G c.881C>G (p.Thr294Ser) c.401C>G (p.Thr134Ser) c.182C>G (p.Thr61Ser) c.1206C>G c.370C>G (n.370C>G) c.875C>G (p.Thr292Ser) c.1253C>G (p.Thr418Ser) | |
| 8 | g.102208152G>T | CA371585235 | RRM2B | c.1037C>A (p.Thr346Asn) n.424C>A c.881C>A (p.Thr294Asn) c.401C>A (p.Thr134Asn) c.182C>A (p.Thr61Asn) c.1206C>A c.370C>A (n.370C>A) c.875C>A (p.Thr292Asn) c.1253C>A (p.Thr418Asn) | |
| 8 | g.102208153T>A | CA371585238 | RRM2B | c.1036A>T (p.Thr346Ser) n.423A>T c.880A>T (p.Thr294Ser) c.400A>T (p.Thr134Ser) c.181A>T (p.Thr61Ser) c.1205A>T c.369A>T (n.369A>T) c.874A>T (p.Thr292Ser) c.1252A>T (p.Thr418Ser) | |
| 8 | g.102208153T>C | CA371585239 | RRM2B | c.1036A>G (p.Thr346Ala) n.423A>G c.880A>G (p.Thr294Ala) c.400A>G (p.Thr134Ala) c.181A>G (p.Thr61Ala) c.1205A>G c.369A>G (n.369A>G) c.874A>G (p.Thr292Ala) c.1252A>G (p.Thr418Ala) | |
| 8 | g.102208153T>G | CA371585241 | RRM2B | c.1036A>C (p.Thr346Pro) n.423A>C c.880A>C (p.Thr294Pro) c.400A>C (p.Thr134Pro) c.181A>C (p.Thr61Pro) c.1205A>C c.369A>C (n.369A>C) c.874A>C (p.Thr292Pro) c.1252A>C (p.Thr418Pro) | |
| 8 | g.102208154G>A | CA4830956 | RRM2B | c.1035C>T (p.Phe345=) n.422C>T c.879C>T (p.Phe293=) c.399C>T (p.Phe133=) c.180C>T (p.Phe60=) c.1204C>T c.368C>T (n.368C>T) c.873C>T (p.Phe291=) c.1251C>T (p.Phe417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208154G>C | CA371585244 | RRM2B | c.1035C>G (p.Phe345Leu) n.422C>G c.879C>G (p.Phe293Leu) c.399C>G (p.Phe133Leu) c.180C>G (p.Phe60Leu) c.1204C>G c.368C>G (n.368C>G) c.873C>G (p.Phe291Leu) c.1251C>G (p.Phe417Leu) | |
| 8 | g.102208154G= | CA1806674663 | RRM2B | c.1035C= (p.Phe345=) n.422C= c.879C= (p.Phe293=) c.399C= (p.Phe133=) c.180C= (p.Phe60=) c.1204C= c.368C= (n.368C=) c.873C= (p.Phe291=) c.1251C= (p.Phe417=) | |
| 8 | g.102208154G>T | CA371585246 | RRM2B | c.1035C>A (p.Phe345Leu) n.422C>A c.879C>A (p.Phe293Leu) c.399C>A (p.Phe133Leu) c.180C>A (p.Phe60Leu) c.1204C>A c.368C>A (n.368C>A) c.873C>A (p.Phe291Leu) c.1251C>A (p.Phe417Leu) | |
| 8 | g.102208155A>C | CA371585249 | RRM2B | c.1034T>G (p.Phe345Cys) n.421T>G c.878T>G (p.Phe293Cys) c.398T>G (p.Phe133Cys) c.179T>G (p.Phe60Cys) c.1203T>G c.367T>G (n.367T>G) c.872T>G (p.Phe291Cys) c.1250T>G (p.Phe417Cys) | |
| 8 | g.102208155A>G | CA371585251 | RRM2B | c.1034T>C (p.Phe345Ser) n.421T>C c.878T>C (p.Phe293Ser) c.398T>C (p.Phe133Ser) c.179T>C (p.Phe60Ser) c.1203T>C c.367T>C (n.367T>C) c.872T>C (p.Phe291Ser) c.1250T>C (p.Phe417Ser) |