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.102208241del | CA213025 | RRM2B | c.950del (p.Leu317Ter) n.337del c.794del (p.Leu265Ter) c.314del (p.Leu105Ter) c.95del (p.Leu32Ter) c.1119del c.283del (n.283del) c.788del (p.Leu263Ter) c.1166del (p.Leu389Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.102208240A= | CA1806674687 | RRM2B | c.949T= (p.Leu317=) n.336T= c.793T= (p.Leu265=) c.313T= (p.Leu105=) c.94T= (p.Leu32=) c.1118T= c.282T= (n.282T=) c.787T= (p.Leu263=) c.1165T= (p.Leu389=) | |
| 8 | g.102208240A>C | CA345618 | RRM2B | c.949T>G (p.Leu317Val) n.336T>G c.793T>G (p.Leu265Val) c.313T>G (p.Leu105Val) c.94T>G (p.Leu32Val) c.1118T>G c.282T>G (n.282T>G) c.787T>G (p.Leu263Val) c.1165T>G (p.Leu389Val) | ClinVar dbSNP |
| 8 | g.102208240A>G | CA462123904 | RRM2B | c.949T>C (p.Leu317=) n.336T>C c.793T>C (p.Leu265=) c.313T>C (p.Leu105=) c.94T>C (p.Leu32=) c.1118T>C c.282T>C (n.282T>C) c.787T>C (p.Leu263=) c.1165T>C (p.Leu389=) | |
| 8 | g.102208240A>T | CA371586180 | RRM2B | c.949T>A (p.Leu317Ile) n.336T>A c.793T>A (p.Leu265Ile) c.313T>A (p.Leu105Ile) c.94T>A (p.Leu32Ile) c.1118T>A c.282T>A (n.282T>A) c.787T>A (p.Leu263Ile) c.1165T>A (p.Leu389Ile) | |
| 8 | g.102208241A>C | CA462123907 | RRM2B | c.948T>G (p.Ser316=) n.335T>G c.792T>G (p.Ser264=) c.312T>G (p.Ser104=) c.93T>G (p.Ser31=) c.1117T>G c.281T>G (n.281T>G) c.786T>G (p.Ser262=) c.1164T>G (p.Ser388=) | |
| 8 | g.102208241A>G | CA462123908 | RRM2B | c.948T>C (p.Ser316=) n.335T>C c.792T>C (p.Ser264=) c.312T>C (p.Ser104=) c.93T>C (p.Ser31=) c.1117T>C c.281T>C (n.281T>C) c.786T>C (p.Ser262=) c.1164T>C (p.Ser388=) | |
| 8 | g.102208241A>T | CA462123910 | RRM2B | c.948T>A (p.Ser316=) n.335T>A c.792T>A (p.Ser264=) c.312T>A (p.Ser104=) c.93T>A (p.Ser31=) c.1117T>A c.281T>A (n.281T>A) c.786T>A (p.Ser262=) c.1164T>A (p.Ser388=) | |
| 8 | g.102208242G>A | CA371586182 | RRM2B | c.947C>T (p.Ser316Phe) n.334C>T c.791C>T (p.Ser264Phe) c.311C>T (p.Ser104Phe) c.92C>T (p.Ser31Phe) c.1116C>T c.280C>T (n.280C>T) c.785C>T (p.Ser262Phe) c.1163C>T (p.Ser388Phe) | gnomAD v4 |
| 8 | g.102208242G>C | CA371586186 | RRM2B | c.947C>G (p.Ser316Cys) n.334C>G c.791C>G (p.Ser264Cys) c.311C>G (p.Ser104Cys) c.92C>G (p.Ser31Cys) c.1116C>G c.280C>G (n.280C>G) c.785C>G (p.Ser262Cys) c.1163C>G (p.Ser388Cys) | COSMIC |
| 8 | g.102208242G>T | CA371586181 | RRM2B | c.947C>A (p.Ser316Tyr) n.334C>A c.791C>A (p.Ser264Tyr) c.311C>A (p.Ser104Tyr) c.92C>A (p.Ser31Tyr) c.1116C>A c.280C>A (n.280C>A) c.785C>A (p.Ser262Tyr) c.1163C>A (p.Ser388Tyr) | gnomAD v4 COSMIC |
| 8 | g.102208243A= | CA1806674688 | RRM2B | c.946T= (p.Ser316=) n.333T= c.790T= (p.Ser264=) c.310T= (p.Ser104=) c.91T= (p.Ser31=) c.1115T= c.279T= (n.279T=) c.784T= (p.Ser262=) c.1162T= (p.Ser388=) | |
| 8 | g.102208243A>C | CA371586189 | RRM2B | c.946T>G (p.Ser316Ala) n.333T>G c.790T>G (p.Ser264Ala) c.310T>G (p.Ser104Ala) c.91T>G (p.Ser31Ala) c.1115T>G c.279T>G (n.279T>G) c.784T>G (p.Ser262Ala) c.1162T>G (p.Ser388Ala) | gnomAD v4 |
| 8 | g.102208243A>G | CA371586194 | RRM2B | c.946T>C (p.Ser316Pro) n.333T>C c.790T>C (p.Ser264Pro) c.310T>C (p.Ser104Pro) c.91T>C (p.Ser31Pro) c.1115T>C c.279T>C (n.279T>C) c.784T>C (p.Ser262Pro) c.1162T>C (p.Ser388Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208243A>T | CA371586191 | RRM2B | c.946T>A (p.Ser316Thr) n.333T>A c.790T>A (p.Ser264Thr) c.310T>A (p.Ser104Thr) c.91T>A (p.Ser31Thr) c.1115T>A c.279T>A (n.279T>A) c.784T>A (p.Ser262Thr) c.1162T>A (p.Ser388Thr) | |
| 8 | g.102208244A>C | CA371586199 | RRM2B | c.945T>G (p.Ile315Met) n.332T>G c.789T>G (p.Ile263Met) c.309T>G (p.Ile103Met) c.90T>G (p.Ile30Met) c.1114T>G c.278T>G (n.278T>G) c.783T>G (p.Ile261Met) c.1161T>G (p.Ile387Met) | |
| 8 | g.102208244A>G | CA462123925 | RRM2B | c.945T>C (p.Ile315=) n.332T>C c.789T>C (p.Ile263=) c.309T>C (p.Ile103=) c.90T>C (p.Ile30=) c.1114T>C c.278T>C (n.278T>C) c.783T>C (p.Ile261=) c.1161T>C (p.Ile387=) | |
| 8 | g.102208244A>T | CA462123926 | RRM2B | c.945T>A (p.Ile315=) n.332T>A c.789T>A (p.Ile263=) c.309T>A (p.Ile103=) c.90T>A (p.Ile30=) c.1114T>A c.278T>A (n.278T>A) c.783T>A (p.Ile261=) c.1161T>A (p.Ile387=) | |
| 8 | g.102208245A>C | CA371586208 | RRM2B | c.944T>G (p.Ile315Ser) n.331T>G c.788T>G (p.Ile263Ser) c.308T>G (p.Ile103Ser) c.89T>G (p.Ile30Ser) c.1113T>G c.277T>G (n.277T>G) c.782T>G (p.Ile261Ser) c.1160T>G (p.Ile387Ser) | |
| 8 | g.102208245A>G | CA371586205 | RRM2B | c.944T>C (p.Ile315Thr) n.331T>C c.788T>C (p.Ile263Thr) c.308T>C (p.Ile103Thr) c.89T>C (p.Ile30Thr) c.1113T>C c.277T>C (n.277T>C) c.782T>C (p.Ile261Thr) c.1160T>C (p.Ile387Thr) | |
| 8 | g.102208245A>T | CA371586213 | RRM2B | c.944T>A (p.Ile315Asn) n.331T>A c.788T>A (p.Ile263Asn) c.308T>A (p.Ile103Asn) c.89T>A (p.Ile30Asn) c.1113T>A c.277T>A (n.277T>A) c.782T>A (p.Ile261Asn) c.1160T>A (p.Ile387Asn) | |
| 8 | g.102208246T>A | CA371586218 | RRM2B | c.943A>T (p.Ile315Phe) n.330A>T c.787A>T (p.Ile263Phe) c.307A>T (p.Ile103Phe) c.88A>T (p.Ile30Phe) c.1112A>T c.276A>T (n.276A>T) c.781A>T (p.Ile261Phe) c.1159A>T (p.Ile387Phe) | |
| 8 | g.102208246T>C | CA371586225 | RRM2B | c.943A>G (p.Ile315Val) n.330A>G c.787A>G (p.Ile263Val) c.307A>G (p.Ile103Val) c.88A>G (p.Ile30Val) c.1112A>G c.276A>G (n.276A>G) c.781A>G (p.Ile261Val) c.1159A>G (p.Ile387Val) | gnomAD v4 |
| 8 | g.102208246T>G | CA371586222 | RRM2B | c.943A>C (p.Ile315Leu) n.330A>C c.787A>C (p.Ile263Leu) c.307A>C (p.Ile103Leu) c.88A>C (p.Ile30Leu) c.1112A>C c.276A>C (n.276A>C) c.781A>C (p.Ile261Leu) c.1159A>C (p.Ile387Leu) | |
| 8 | g.102208247G>A | CA462123940 | RRM2B | c.942C>T (p.Asn314=) n.329C>T c.786C>T (p.Asn262=) c.306C>T (p.Asn102=) c.87C>T (p.Asn29=) c.1111C>T c.275C>T (n.275C>T) c.780C>T (p.Asn260=) c.1158C>T (p.Asn386=) | |
| 8 | g.102208247G>C | CA371586233 | RRM2B | c.942C>G (p.Asn314Lys) n.329C>G c.786C>G (p.Asn262Lys) c.306C>G (p.Asn102Lys) c.87C>G (p.Asn29Lys) c.1111C>G c.275C>G (n.275C>G) c.780C>G (p.Asn260Lys) c.1158C>G (p.Asn386Lys) | dbSNP |
| 8 | g.102208247G>T | CA371586235 | RRM2B | c.942C>A (p.Asn314Lys) n.329C>A c.786C>A (p.Asn262Lys) c.306C>A (p.Asn102Lys) c.87C>A (p.Asn29Lys) c.1111C>A c.275C>A (n.275C>A) c.780C>A (p.Asn260Lys) c.1158C>A (p.Asn386Lys) | |
| 8 | g.102208248T>A | CA371586239 | RRM2B | c.941A>T (p.Asn314Ile) n.328A>T c.785A>T (p.Asn262Ile) c.305A>T (p.Asn102Ile) c.86A>T (p.Asn29Ile) c.1110A>T c.274A>T (n.274A>T) c.779A>T (p.Asn260Ile) c.1157A>T (p.Asn386Ile) | dbSNP |
| 8 | g.102208248T>C | CA371586242 | RRM2B | c.941A>G (p.Asn314Ser) n.328A>G c.785A>G (p.Asn262Ser) c.305A>G (p.Asn102Ser) c.86A>G (p.Asn29Ser) c.1110A>G c.274A>G (n.274A>G) c.779A>G (p.Asn260Ser) c.1157A>G (p.Asn386Ser) | |
| 8 | g.102208248T>G | CA371586246 | RRM2B | c.941A>C (p.Asn314Thr) n.328A>C c.785A>C (p.Asn262Thr) c.305A>C (p.Asn102Thr) c.86A>C (p.Asn29Thr) c.1110A>C c.274A>C (n.274A>C) c.779A>C (p.Asn260Thr) c.1157A>C (p.Asn386Thr) | |
| 8 | g.102208251del | CA2580078498 | RRM2B | c.941del (p.Asn314ThrfsTer4) n.328del c.785del (p.Asn262ThrfsTer4) c.305del (p.Asn102ThrfsTer4) c.86del (p.Asn29ThrfsTer4) c.1110del c.274del (n.274del) c.779del (p.Asn260ThrfsTer4) c.1157del (p.Asn386ThrfsTer4) | ClinVar |
| 8 | g.102208249T>A | CA371586250 | RRM2B | c.940A>T (p.Asn314Tyr) n.327A>T c.784A>T (p.Asn262Tyr) c.304A>T (p.Asn102Tyr) c.85A>T (p.Asn29Tyr) c.1109A>T c.273A>T (n.273A>T) c.778A>T (p.Asn260Tyr) c.1156A>T (p.Asn386Tyr) | ClinVar |
| 8 | g.102208249T>C | CA371586252 | RRM2B | c.940A>G (p.Asn314Asp) n.327A>G c.784A>G (p.Asn262Asp) c.304A>G (p.Asn102Asp) c.85A>G (p.Asn29Asp) c.1109A>G c.273A>G (n.273A>G) c.778A>G (p.Asn260Asp) c.1156A>G (p.Asn386Asp) | |
| 8 | g.102208249T>G | CA371586255 | RRM2B | c.940A>C (p.Asn314His) n.327A>C c.784A>C (p.Asn262His) c.304A>C (p.Asn102His) c.85A>C (p.Asn29His) c.1109A>C c.273A>C (n.273A>C) c.778A>C (p.Asn260His) c.1156A>C (p.Asn386His) | |
| 8 | g.102208250T>A | CA371586261 | RRM2B | c.939A>T (p.Glu313Asp) n.326A>T c.783A>T (p.Glu261Asp) c.303A>T (p.Glu101Asp) c.84A>T (p.Glu28Asp) c.1108A>T c.272A>T (n.272A>T) c.777A>T (p.Glu259Asp) c.1155A>T (p.Glu385Asp) | |
| 8 | g.102208250T>C | CA462123944 | RRM2B | c.939A>G (p.Glu313=) n.326A>G c.783A>G (p.Glu261=) c.303A>G (p.Glu101=) c.84A>G (p.Glu28=) c.1108A>G c.272A>G (n.272A>G) c.777A>G (p.Glu259=) c.1155A>G (p.Glu385=) | |
| 8 | g.102208250T>G | CA371586263 | RRM2B | c.939A>C (p.Glu313Asp) n.326A>C c.783A>C (p.Glu261Asp) c.303A>C (p.Glu101Asp) c.84A>C (p.Glu28Asp) c.1108A>C c.272A>C (n.272A>C) c.777A>C (p.Glu259Asp) c.1155A>C (p.Glu385Asp) | |
| 8 | g.102208251T>A | CA371586271 | RRM2B | c.938A>T (p.Glu313Val) n.325A>T c.782A>T (p.Glu261Val) c.302A>T (p.Glu101Val) c.83A>T (p.Glu28Val) c.1107A>T c.271A>T (n.271A>T) c.776A>T (p.Glu259Val) c.1154A>T (p.Glu385Val) | |
| 8 | g.102208251T>C | CA371586267 | RRM2B | c.938A>G (p.Glu313Gly) n.325A>G c.782A>G (p.Glu261Gly) c.302A>G (p.Glu101Gly) c.83A>G (p.Glu28Gly) c.1107A>G c.271A>G (n.271A>G) c.776A>G (p.Glu259Gly) c.1154A>G (p.Glu385Gly) | gnomAD v4 |
| 8 | g.102208251T>G | CA371586265 | RRM2B | c.938A>C (p.Glu313Ala) n.325A>C c.782A>C (p.Glu261Ala) c.302A>C (p.Glu101Ala) c.83A>C (p.Glu28Ala) c.1107A>C c.271A>C (n.271A>C) c.776A>C (p.Glu259Ala) c.1154A>C (p.Glu385Ala) | |
| 8 | g.102208252C>A | CA371586277 | RRM2B | c.937G>T (p.Glu313Ter) n.324G>T c.781G>T (p.Glu261Ter) c.301G>T (p.Glu101Ter) c.82G>T (p.Glu28Ter) c.1106G>T c.270G>T (n.270G>T) c.775G>T (p.Glu259Ter) c.1153G>T (p.Glu385Ter) | |
| 8 | g.102208252C>G | CA371586281 | RRM2B | c.937G>C (p.Glu313Gln) n.324G>C c.781G>C (p.Glu261Gln) c.301G>C (p.Glu101Gln) c.82G>C (p.Glu28Gln) c.1106G>C c.270G>C (n.270G>C) c.775G>C (p.Glu259Gln) c.1153G>C (p.Glu385Gln) | |
| 8 | g.102208252C>T | CA371586283 | RRM2B | c.937G>A (p.Glu313Lys) n.324G>A c.781G>A (p.Glu261Lys) c.301G>A (p.Glu101Lys) c.82G>A (p.Glu28Lys) c.1106G>A c.270G>A (n.270G>A) c.775G>A (p.Glu259Lys) c.1153G>A (p.Glu385Lys) | |
| 8 | g.102208253C>A | CA371586290 | RRM2B | c.936G>T (p.Met312Ile) n.323G>T c.780G>T (p.Met260Ile) c.300G>T (p.Met100Ile) c.81G>T (p.Met27Ile) c.1105G>T c.269G>T (n.269G>T) c.774G>T (p.Met258Ile) c.1152G>T (p.Met384Ile) | |
| 8 | g.102208253C>G | CA371586294 | RRM2B | c.936G>C (p.Met312Ile) n.323G>C c.780G>C (p.Met260Ile) c.300G>C (p.Met100Ile) c.81G>C (p.Met27Ile) c.1105G>C c.269G>C (n.269G>C) c.774G>C (p.Met258Ile) c.1152G>C (p.Met384Ile) | |
| 8 | g.102208253C>T | CA371586297 | RRM2B | c.936G>A (p.Met312Ile) n.323G>A c.780G>A (p.Met260Ile) c.300G>A (p.Met100Ile) c.81G>A (p.Met27Ile) c.1105G>A c.269G>A (n.269G>A) c.774G>A (p.Met258Ile) c.1152G>A (p.Met384Ile) | |
| 8 | g.102208254A>C | CA371586301 | RRM2B | c.935T>G (p.Met312Arg) n.322T>G c.779T>G (p.Met260Arg) c.299T>G (p.Met100Arg) c.80T>G (p.Met27Arg) c.1104T>G c.268T>G (n.268T>G) c.773T>G (p.Met258Arg) c.1151T>G (p.Met384Arg) | |
| 8 | g.102208254A>G | CA371586303 | RRM2B | c.935T>C (p.Met312Thr) n.322T>C c.779T>C (p.Met260Thr) c.299T>C (p.Met100Thr) c.80T>C (p.Met27Thr) c.1104T>C c.268T>C (n.268T>C) c.773T>C (p.Met258Thr) c.1151T>C (p.Met384Thr) | |
| 8 | g.102208254A>T | CA371586305 | RRM2B | c.935T>A (p.Met312Lys) n.322T>A c.779T>A (p.Met260Lys) c.299T>A (p.Met100Lys) c.80T>A (p.Met27Lys) c.1104T>A c.268T>A (n.268T>A) c.773T>A (p.Met258Lys) c.1151T>A (p.Met384Lys) | |
| 8 | g.102208254_102208255insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG | CA2688143449 | RRM2B | c.934_935insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met312ThrfsTer24) n.321_322insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC c.778_779insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met260ThrfsTer24) c.298_299insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met100ThrfsTer24) c.79_80insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met27ThrfsTer24) c.1103_1104insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC c.267_268insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (n.267_268insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC) c.772_773insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met258ThrfsTer24) c.1150_1151insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met384ThrfsTer24) | gnomAD v4 |