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.102208227_102208230del | CA2688143447 | RRM2B | c.962_965del (p.Thr321IlefsTer?) n.349_352del c.806_809del (p.Thr269IlefsTer?) c.326_329del (p.Thr109IlefsTer?) c.107_110del (p.Thr36IlefsTer?) c.1131_1134del c.295_298del (n.295_298del) c.800_803del (p.Thr267IlefsTer?) c.1178_1181del (p.Thr393IlefsTer?) | gnomAD v4 |
| 8 | g.102208226_102208227delinsTG | CA1806674682 | RRM2B | c.962_963delinsCA (p.Thr321=) n.349_350delinsCA c.806_807delinsCA (p.Thr269=) c.326_327delinsCA (p.Thr109=) c.107_108delinsCA (p.Thr36=) c.1131_1132delinsCA c.295_296delinsCA (n.295_296delinsCA) c.800_801delinsCA (p.Thr267=) c.1178_1179delinsCA (p.Thr393=) | |
| 8 | g.102208227del | CA583906539 | RRM2B | c.962del (p.Thr321LysfsTer?) n.349del c.806del (p.Thr269LysfsTer?) c.326del (p.Thr109LysfsTer?) c.107del (p.Thr36LysfsTer?) c.1131del c.295del (n.295del) c.800del (p.Thr267LysfsTer?) c.1178del (p.Thr393LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208227G>A | CA371586051 | RRM2B | c.962C>T (p.Thr321Ile) n.349C>T c.806C>T (p.Thr269Ile) c.326C>T (p.Thr109Ile) c.107C>T (p.Thr36Ile) c.1131C>T c.295C>T (n.295C>T) c.800C>T (p.Thr267Ile) c.1178C>T (p.Thr393Ile) | |
| 8 | g.102208227G>C | CA371586055 | RRM2B | c.962C>G (p.Thr321Arg) n.349C>G c.806C>G (p.Thr269Arg) c.326C>G (p.Thr109Arg) c.107C>G (p.Thr36Arg) c.1131C>G c.295C>G (n.295C>G) c.800C>G (p.Thr267Arg) c.1178C>G (p.Thr393Arg) | |
| 8 | g.102208227G>T | CA371586057 | RRM2B | c.962C>A (p.Thr321Lys) n.349C>A c.806C>A (p.Thr269Lys) c.326C>A (p.Thr109Lys) c.107C>A (p.Thr36Lys) c.1131C>A c.295C>A (n.295C>A) c.800C>A (p.Thr267Lys) c.1178C>A (p.Thr393Lys) | |
| 8 | g.102208227_102208239del | CA2565827477 | RRM2B | c.950_962del (p.Leu317Ter) n.337_349del c.794_806del (p.Leu265Ter) c.314_326del (p.Leu105Ter) c.95_107del (p.Leu32Ter) c.1119_1131del c.283_295del (n.283_295del) c.788_800del (p.Leu263Ter) c.1166_1178del (p.Leu389Ter) | |
| 8 | g.102208228T>A | CA371586059 | RRM2B | c.961A>T (p.Thr321Ser) n.348A>T c.805A>T (p.Thr269Ser) c.325A>T (p.Thr109Ser) c.106A>T (p.Thr36Ser) c.1130A>T c.294A>T (n.294A>T) c.799A>T (p.Thr267Ser) c.1177A>T (p.Thr393Ser) | |
| 8 | g.102208228T>C | CA371586061 | RRM2B | c.961A>G (p.Thr321Ala) n.348A>G c.805A>G (p.Thr269Ala) c.325A>G (p.Thr109Ala) c.106A>G (p.Thr36Ala) c.1130A>G c.294A>G (n.294A>G) c.799A>G (p.Thr267Ala) c.1177A>G (p.Thr393Ala) | |
| 8 | g.102208228T>G | CA371586065 | RRM2B | c.961A>C (p.Thr321Pro) n.348A>C c.805A>C (p.Thr269Pro) c.325A>C (p.Thr109Pro) c.106A>C (p.Thr36Pro) c.1130A>C c.294A>C (n.294A>C) c.799A>C (p.Thr267Pro) c.1177A>C (p.Thr393Pro) | |
| 8 | g.102208232del | CA2688143448 | RRM2B | c.961del (p.Thr321GlnfsTer?) n.348del c.805del (p.Thr269GlnfsTer?) c.325del (p.Thr109GlnfsTer?) c.106del (p.Thr36GlnfsTer?) c.1130del c.294del (n.294del) c.799del (p.Thr267GlnfsTer?) c.1177del (p.Thr393GlnfsTer?) | gnomAD v4 |
| 8 | g.102208229T>A | CA371586067 | RRM2B | c.960A>T (p.Lys320Asn) n.347A>T c.804A>T (p.Lys268Asn) c.324A>T (p.Lys108Asn) c.105A>T (p.Lys35Asn) c.1129A>T c.293A>T (n.293A>T) c.798A>T (p.Lys266Asn) c.1176A>T (p.Lys392Asn) | |
| 8 | g.102208229T>C | CA462123856 | RRM2B | c.960A>G (p.Lys320=) n.347A>G c.804A>G (p.Lys268=) c.324A>G (p.Lys108=) c.105A>G (p.Lys35=) c.1129A>G c.293A>G (n.293A>G) c.798A>G (p.Lys266=) c.1176A>G (p.Lys392=) | |
| 8 | g.102208229T>G | CA371586072 | RRM2B | c.960A>C (p.Lys320Asn) n.347A>C c.804A>C (p.Lys268Asn) c.324A>C (p.Lys108Asn) c.105A>C (p.Lys35Asn) c.1129A>C c.293A>C (n.293A>C) c.798A>C (p.Lys266Asn) c.1176A>C (p.Lys392Asn) | |
| 8 | g.102208230T>A | CA371586075 | RRM2B | c.959A>T (p.Lys320Ile) n.346A>T c.803A>T (p.Lys268Ile) c.323A>T (p.Lys108Ile) c.104A>T (p.Lys35Ile) c.1128A>T c.292A>T (n.292A>T) c.797A>T (p.Lys266Ile) c.1175A>T (p.Lys392Ile) | |
| 8 | g.102208230T>C | CA371586077 | RRM2B | c.959A>G (p.Lys320Arg) n.346A>G c.803A>G (p.Lys268Arg) c.323A>G (p.Lys108Arg) c.104A>G (p.Lys35Arg) c.1128A>G c.292A>G (n.292A>G) c.797A>G (p.Lys266Arg) c.1175A>G (p.Lys392Arg) | |
| 8 | g.102208230T>G | CA371586080 | RRM2B | c.959A>C (p.Lys320Thr) n.346A>C c.803A>C (p.Lys268Thr) c.323A>C (p.Lys108Thr) c.104A>C (p.Lys35Thr) c.1128A>C c.292A>C (n.292A>C) c.797A>C (p.Lys266Thr) c.1175A>C (p.Lys392Thr) | |
| 8 | g.102208231T>A | CA371586085 | RRM2B | c.958A>T (p.Lys320Ter) n.345A>T c.802A>T (p.Lys268Ter) c.322A>T (p.Lys108Ter) c.103A>T (p.Lys35Ter) c.1127A>T c.291A>T (n.291A>T) c.796A>T (p.Lys266Ter) c.1174A>T (p.Lys392Ter) | |
| 8 | g.102208231T>C | CA371586092 | RRM2B | c.958A>G (p.Lys320Glu) n.345A>G c.802A>G (p.Lys268Glu) c.322A>G (p.Lys108Glu) c.103A>G (p.Lys35Glu) c.1127A>G c.291A>G (n.291A>G) c.796A>G (p.Lys266Glu) c.1174A>G (p.Lys392Glu) | |
| 8 | g.102208231T>G | CA371586096 | RRM2B | c.958A>C (p.Lys320Gln) n.345A>C c.802A>C (p.Lys268Gln) c.322A>C (p.Lys108Gln) c.103A>C (p.Lys35Gln) c.1127A>C c.291A>C (n.291A>C) c.796A>C (p.Lys266Gln) c.1174A>C (p.Lys392Gln) | |
| 8 | g.102208232T>A | CA462123867 | RRM2B | c.957A>T (p.Gly319=) n.344A>T c.801A>T (p.Gly267=) c.321A>T (p.Gly107=) c.102A>T (p.Gly34=) c.1126A>T c.290A>T (n.290A>T) c.795A>T (p.Gly265=) c.1173A>T (p.Gly391=) | |
| 8 | g.102208232T>C | CA4830959 | RRM2B | c.957A>G (p.Gly319=) n.344A>G c.801A>G (p.Gly267=) c.321A>G (p.Gly107=) c.102A>G (p.Gly34=) c.1126A>G c.290A>G (n.290A>G) c.795A>G (p.Gly265=) c.1173A>G (p.Gly391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208232T>G | CA462123874 | RRM2B | c.957A>C (p.Gly319=) n.344A>C c.801A>C (p.Gly267=) c.321A>C (p.Gly107=) c.102A>C (p.Gly34=) c.1126A>C c.290A>C (n.290A>C) c.795A>C (p.Gly265=) c.1173A>C (p.Gly391=) | dbSNP |
| 8 | g.102208232T= | CA1806674683 | RRM2B | c.957A= (p.Gly319=) n.344A= c.801A= (p.Gly267=) c.321A= (p.Gly107=) c.102A= (p.Gly34=) c.1126A= c.290A= (n.290A=) c.795A= (p.Gly265=) c.1173A= (p.Gly391=) | |
| 8 | g.102208233C>A | CA371586116 | RRM2B | c.956G>T (p.Gly319Val) n.343G>T c.800G>T (p.Gly267Val) c.320G>T (p.Gly107Val) c.101G>T (p.Gly34Val) c.1125G>T c.289G>T (n.289G>T) c.794G>T (p.Gly265Val) c.1172G>T (p.Gly391Val) | |
| 8 | g.102208233C= | CA1806674684 | RRM2B | c.956G= (p.Gly319=) n.343G= c.800G= (p.Gly267=) c.320G= (p.Gly107=) c.101G= (p.Gly34=) c.1125G= c.289G= (n.289G=) c.794G= (p.Gly265=) c.1172G= (p.Gly391=) | |
| 8 | g.102208233C>G | CA4830960 | RRM2B | c.956G>C (p.Gly319Ala) n.343G>C c.800G>C (p.Gly267Ala) c.320G>C (p.Gly107Ala) c.101G>C (p.Gly34Ala) c.1125G>C c.289G>C (n.289G>C) c.794G>C (p.Gly265Ala) c.1172G>C (p.Gly391Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208233C>T | CA371586120 | RRM2B | c.956G>A (p.Gly319Glu) n.343G>A c.800G>A (p.Gly267Glu) c.320G>A (p.Gly107Glu) c.101G>A (p.Gly34Glu) c.1125G>A c.289G>A (n.289G>A) c.794G>A (p.Gly265Glu) c.1172G>A (p.Gly391Glu) | |
| 8 | g.102208234C>A | CA371586124 | RRM2B | c.955G>T (p.Gly319Ter) n.342G>T c.799G>T (p.Gly267Ter) c.319G>T (p.Gly107Ter) c.100G>T (p.Gly34Ter) c.1124G>T c.288G>T (n.288G>T) c.793G>T (p.Gly265Ter) c.1171G>T (p.Gly391Ter) | |
| 8 | g.102208234C>G | CA371586129 | RRM2B | c.955G>C (p.Gly319Arg) n.342G>C c.799G>C (p.Gly267Arg) c.319G>C (p.Gly107Arg) c.100G>C (p.Gly34Arg) c.1124G>C c.288G>C (n.288G>C) c.793G>C (p.Gly265Arg) c.1171G>C (p.Gly391Arg) | |
| 8 | g.102208234C>T | CA371586131 | RRM2B | c.955G>A (p.Gly319Arg) n.342G>A c.799G>A (p.Gly267Arg) c.319G>A (p.Gly107Arg) c.100G>A (p.Gly34Arg) c.1124G>A c.288G>A (n.288G>A) c.793G>A (p.Gly265Arg) c.1171G>A (p.Gly391Arg) | |
| 8 | g.102208235T>A | CA371586136 | RRM2B | c.954A>T (p.Glu318Asp) n.341A>T c.798A>T (p.Glu266Asp) c.318A>T (p.Glu106Asp) c.99A>T (p.Glu33Asp) c.1123A>T c.287A>T (n.287A>T) c.792A>T (p.Glu264Asp) c.1170A>T (p.Glu390Asp) | |
| 8 | g.102208235T>C | CA462123884 | RRM2B | c.954A>G (p.Glu318=) n.341A>G c.798A>G (p.Glu266=) c.318A>G (p.Glu106=) c.99A>G (p.Glu33=) c.1123A>G c.287A>G (n.287A>G) c.792A>G (p.Glu264=) c.1170A>G (p.Glu390=) | |
| 8 | g.102208235T>G | CA371586133 | RRM2B | c.954A>C (p.Glu318Asp) n.341A>C c.798A>C (p.Glu266Asp) c.318A>C (p.Glu106Asp) c.99A>C (p.Glu33Asp) c.1123A>C c.287A>C (n.287A>C) c.792A>C (p.Glu264Asp) c.1170A>C (p.Glu390Asp) | |
| 8 | g.102208236T>A | CA371586141 | RRM2B | c.953A>T (p.Glu318Val) n.340A>T c.797A>T (p.Glu266Val) c.317A>T (p.Glu106Val) c.98A>T (p.Glu33Val) c.1122A>T c.286A>T (n.286A>T) c.791A>T (p.Glu264Val) c.1169A>T (p.Glu390Val) | |
| 8 | g.102208236T>C | CA371586145 | RRM2B | c.953A>G (p.Glu318Gly) n.340A>G c.797A>G (p.Glu266Gly) c.317A>G (p.Glu106Gly) c.98A>G (p.Glu33Gly) c.1122A>G c.286A>G (n.286A>G) c.791A>G (p.Glu264Gly) c.1169A>G (p.Glu390Gly) | |
| 8 | g.102208236T>G | CA371586148 | RRM2B | c.953A>C (p.Glu318Ala) n.340A>C c.797A>C (p.Glu266Ala) c.317A>C (p.Glu106Ala) c.98A>C (p.Glu33Ala) c.1122A>C c.286A>C (n.286A>C) c.791A>C (p.Glu264Ala) c.1169A>C (p.Glu390Ala) | |
| 8 | g.102208237C>A | CA345622 | RRM2B | c.952G>T (p.Glu318Ter) n.339G>T c.796G>T (p.Glu266Ter) c.316G>T (p.Glu106Ter) c.97G>T (p.Glu33Ter) c.1121G>T c.285G>T (n.285G>T) c.790G>T (p.Glu264Ter) c.1168G>T (p.Glu390Ter) | ClinVar dbSNP |
| 8 | g.102208237C= | CA1806674685 | RRM2B | c.952G= (p.Glu318=) n.339G= c.796G= (p.Glu266=) c.316G= (p.Glu106=) c.97G= (p.Glu33=) c.1121G= c.285G= (n.285G=) c.790G= (p.Glu264=) c.1168G= (p.Glu390=) | |
| 8 | g.102208237C>G | CA371586161 | RRM2B | c.952G>C (p.Glu318Gln) n.339G>C c.796G>C (p.Glu266Gln) c.316G>C (p.Glu106Gln) c.97G>C (p.Glu33Gln) c.1121G>C c.285G>C (n.285G>C) c.790G>C (p.Glu264Gln) c.1168G>C (p.Glu390Gln) | |
| 8 | g.102208237C>T | CA371586163 | RRM2B | c.952G>A (p.Glu318Lys) n.339G>A c.796G>A (p.Glu266Lys) c.316G>A (p.Glu106Lys) c.97G>A (p.Glu33Lys) c.1121G>A c.285G>A (n.285G>A) c.790G>A (p.Glu264Lys) c.1168G>A (p.Glu390Lys) | |
| 8 | g.102208238T>A | CA371586166 | RRM2B | c.951A>T (p.Leu317Phe) n.338A>T c.795A>T (p.Leu265Phe) c.315A>T (p.Leu105Phe) c.96A>T (p.Leu32Phe) c.1120A>T c.284A>T (n.284A>T) c.789A>T (p.Leu263Phe) c.1167A>T (p.Leu389Phe) | |
| 8 | g.102208238T>C | CA462123899 | RRM2B | c.951A>G (p.Leu317=) n.338A>G c.795A>G (p.Leu265=) c.315A>G (p.Leu105=) c.96A>G (p.Leu32=) c.1120A>G c.284A>G (n.284A>G) c.789A>G (p.Leu263=) c.1167A>G (p.Leu389=) | dbSNP |
| 8 | g.102208238T>G | CA371586173 | RRM2B | c.951A>C (p.Leu317Phe) n.338A>C c.795A>C (p.Leu265Phe) c.315A>C (p.Leu105Phe) c.96A>C (p.Leu32Phe) c.1120A>C c.284A>C (n.284A>C) c.789A>C (p.Leu263Phe) c.1167A>C (p.Leu389Phe) | |
| 8 | g.102208238_102208239delinsTA | CA1806674686 | RRM2B | c.950_951delinsTA (p.Leu317=) n.337_338delinsTA c.794_795delinsTA (p.Leu265=) c.314_315delinsTA (p.Leu105=) c.95_96delinsTA (p.Leu32=) c.1119_1120delinsTA c.283_284delinsTA (n.283_284delinsTA) c.788_789delinsTA (p.Leu263=) c.1166_1167delinsTA (p.Leu389=) | |
| 8 | g.102208239A>C | CA371586174 | RRM2B | c.950T>G (p.Leu317Ter) n.337T>G c.794T>G (p.Leu265Ter) c.314T>G (p.Leu105Ter) c.95T>G (p.Leu32Ter) c.1119T>G c.283T>G (n.283T>G) c.788T>G (p.Leu263Ter) c.1166T>G (p.Leu389Ter) | |
| 8 | g.102208239A>G | CA371586175 | RRM2B | c.950T>C (p.Leu317Ser) n.337T>C c.794T>C (p.Leu265Ser) c.314T>C (p.Leu105Ser) c.95T>C (p.Leu32Ser) c.1119T>C c.283T>C (n.283T>C) c.788T>C (p.Leu263Ser) c.1166T>C (p.Leu389Ser) | |
| 8 | g.102208239A>T | CA371586177 | RRM2B | c.950T>A (p.Leu317Ter) n.337T>A c.794T>A (p.Leu265Ter) c.314T>A (p.Leu105Ter) c.95T>A (p.Leu32Ter) c.1119T>A c.283T>A (n.283T>A) c.788T>A (p.Leu263Ter) c.1166T>A (p.Leu389Ter) | |
| 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=) |