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 |
|---|---|---|---|---|---|
| 3 | g.30672359C>A | CA432917618 | TGFBR2 | c.1176C>A (p.Thr392=) n.2772C>A c.1251C>A (p.Thr417=) c.1203C>A (p.Thr401=) c.1128C>A (p.Thr376=) c.1071C>A (p.Thr357=) | dbSNP |
| 3 | g.30672359C= | CA1354873259 | TGFBR2 | c.1176C= (p.Thr392=) n.2772C= c.1251C= (p.Thr417=) c.1203C= (p.Thr401=) c.1128C= (p.Thr376=) c.1071C= (p.Thr357=) | |
| 3 | g.30672359C>G | CA432917619 | TGFBR2 | c.1176C>G (p.Thr392=) n.2772C>G c.1251C>G (p.Thr417=) c.1203C>G (p.Thr401=) c.1128C>G (p.Thr376=) c.1071C>G (p.Thr357=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672359C>T | CA432917620 | TGFBR2 | c.1176C>T (p.Thr392=) n.2772C>T c.1251C>T (p.Thr417=) c.1203C>T (p.Thr401=) c.1128C>T (p.Thr376=) c.1071C>T (p.Thr357=) | dbSNP |
| 3 | g.30672360T>A | CA351808698 | TGFBR2 | c.1177T>A (p.Cys393Ser) n.2773T>A c.1252T>A (p.Cys418Ser) c.1204T>A (p.Cys402Ser) c.1129T>A (p.Cys377Ser) c.1072T>A (p.Cys358Ser) | |
| 3 | g.30672360T>C | CA351808699 | TGFBR2 | c.1177T>C (p.Cys393Arg) n.2773T>C c.1252T>C (p.Cys418Arg) c.1204T>C (p.Cys402Arg) c.1129T>C (p.Cys377Arg) c.1072T>C (p.Cys358Arg) | ClinVar dbSNP |
| 3 | g.30672360T>G | CA351808700 | TGFBR2 | c.1177T>G (p.Cys393Gly) n.2773T>G c.1252T>G (p.Cys418Gly) c.1204T>G (p.Cys402Gly) c.1129T>G (p.Cys377Gly) c.1072T>G (p.Cys358Gly) | ClinVar dbSNP |
| 3 | g.30672361G>A | CA10587569 | TGFBR2 | c.1178G>A (p.Cys393Tyr) n.2774G>A c.1253G>A (p.Cys418Tyr) c.1205G>A (p.Cys402Tyr) c.1130G>A (p.Cys377Tyr) c.1073G>A (p.Cys358Tyr) | ClinVar dbSNP |
| 3 | g.30672361G>C | CA351808701 | TGFBR2 | c.1178G>C (p.Cys393Ser) n.2774G>C c.1253G>C (p.Cys418Ser) c.1205G>C (p.Cys402Ser) c.1130G>C (p.Cys377Ser) c.1073G>C (p.Cys358Ser) | dbSNP |
| 3 | g.30672361G= | CA1354873260 | TGFBR2 | c.1178G= (p.Cys393=) n.2774G= c.1253G= (p.Cys418=) c.1205G= (p.Cys402=) c.1130G= (p.Cys377=) c.1073G= (p.Cys358=) | |
| 3 | g.30672361G>T | CA351808702 | TGFBR2 | c.1178G>T (p.Cys393Phe) n.2774G>T c.1253G>T (p.Cys418Phe) c.1205G>T (p.Cys402Phe) c.1130G>T (p.Cys377Phe) c.1073G>T (p.Cys358Phe) | dbSNP COSMIC COSMIC |
| 3 | g.30672362C>A | CA351808703 | TGFBR2 | c.1179C>A (p.Cys393Ter) n.2775C>A c.1254C>A (p.Cys418Ter) c.1206C>A (p.Cys402Ter) c.1131C>A (p.Cys377Ter) c.1074C>A (p.Cys358Ter) | dbSNP |
| 3 | g.30672362C>G | CA351808704 | TGFBR2 | c.1179C>G (p.Cys393Trp) n.2775C>G c.1254C>G (p.Cys418Trp) c.1206C>G (p.Cys402Trp) c.1131C>G (p.Cys377Trp) c.1074C>G (p.Cys358Trp) | dbSNP |
| 3 | g.30672362C>T | CA432917621 | TGFBR2 | c.1179C>T (p.Cys393=) n.2775C>T c.1254C>T (p.Cys418=) c.1206C>T (p.Cys402=) c.1131C>T (p.Cys377=) c.1074C>T (p.Cys358=) | ClinVar dbSNP |
| 3 | g.30672363T>A | CA351808705 | TGFBR2 | c.1180T>A (p.Cys394Ser) n.2776T>A c.1255T>A (p.Cys419Ser) c.1207T>A (p.Cys403Ser) c.1132T>A (p.Cys378Ser) c.1075T>A (p.Cys359Ser) | |
| 3 | g.30672363T>C | CA351808706 | TGFBR2 | c.1180T>C (p.Cys394Arg) n.2776T>C c.1255T>C (p.Cys419Arg) c.1207T>C (p.Cys403Arg) c.1132T>C (p.Cys378Arg) c.1075T>C (p.Cys359Arg) | |
| 3 | g.30672363T>G | CA351808707 | TGFBR2 | c.1180T>G (p.Cys394Gly) n.2776T>G c.1255T>G (p.Cys419Gly) c.1207T>G (p.Cys403Gly) c.1132T>G (p.Cys378Gly) c.1075T>G (p.Cys359Gly) | gnomAD v4 |
| 3 | g.30672364G>A | CA351808708 | TGFBR2 | c.1181G>A (p.Cys394Tyr) n.2777G>A c.1256G>A (p.Cys419Tyr) c.1208G>A (p.Cys403Tyr) c.1133G>A (p.Cys378Tyr) c.1076G>A (p.Cys359Tyr) | ClinVar dbSNP |
| 3 | g.30672364G>C | CA351808710 | TGFBR2 | c.1181G>C (p.Cys394Ser) n.2777G>C c.1256G>C (p.Cys419Ser) c.1208G>C (p.Cys403Ser) c.1133G>C (p.Cys378Ser) c.1076G>C (p.Cys359Ser) | dbSNP |
| 3 | g.30672364G= | CA1354873261 | TGFBR2 | c.1181G= (p.Cys394=) n.2777G= c.1256G= (p.Cys419=) c.1208G= (p.Cys403=) c.1133G= (p.Cys378=) c.1076G= (p.Cys359=) | |
| 3 | g.30672364G>T | CA351808709 | TGFBR2 | c.1181G>T (p.Cys394Phe) n.2777G>T c.1256G>T (p.Cys419Phe) c.1208G>T (p.Cys403Phe) c.1133G>T (p.Cys378Phe) c.1076G>T (p.Cys359Phe) | COSMIC |
| 3 | g.30672365C>A | CA351808711 | TGFBR2 | c.1182C>A (p.Cys394Ter) n.2778C>A c.1257C>A (p.Cys419Ter) c.1209C>A (p.Cys403Ter) c.1134C>A (p.Cys378Ter) c.1077C>A (p.Cys359Ter) | dbSNP |
| 3 | g.30672365C>G | CA351808712 | TGFBR2 | c.1182C>G (p.Cys394Trp) n.2778C>G c.1257C>G (p.Cys419Trp) c.1209C>G (p.Cys403Trp) c.1134C>G (p.Cys378Trp) c.1077C>G (p.Cys359Trp) | dbSNP |
| 3 | g.30672365C>T | CA432917622 | TGFBR2 | c.1182C>T (p.Cys394=) n.2778C>T c.1257C>T (p.Cys419=) c.1209C>T (p.Cys403=) c.1134C>T (p.Cys378=) c.1077C>T (p.Cys359=) | dbSNP gnomAD v4 |
| 3 | g.30672366C>A | CA351808713 | TGFBR2 | c.1183C>A (p.Leu395Met) n.2779C>A c.1258C>A (p.Leu420Met) c.1210C>A (p.Leu404Met) c.1135C>A (p.Leu379Met) c.1078C>A (p.Leu360Met) | |
| 3 | g.30672366C>G | CA351808714 | TGFBR2 | c.1183C>G (p.Leu395Val) n.2779C>G c.1258C>G (p.Leu420Val) c.1210C>G (p.Leu404Val) c.1135C>G (p.Leu379Val) c.1078C>G (p.Leu360Val) | gnomAD v4 |
| 3 | g.30672366C>T | CA432917623 | TGFBR2 | c.1183C>T (p.Leu395=) n.2779C>T c.1258C>T (p.Leu420=) c.1210C>T (p.Leu404=) c.1135C>T (p.Leu379=) c.1078C>T (p.Leu360=) | |
| 3 | g.30672367T>A | CA351808715 | TGFBR2 | c.1184T>A (p.Leu395Gln) n.2780T>A c.1259T>A (p.Leu420Gln) c.1211T>A (p.Leu404Gln) c.1136T>A (p.Leu379Gln) c.1079T>A (p.Leu360Gln) | ClinVar dbSNP |
| 3 | g.30672367T>C | CA351808716 | TGFBR2 | c.1184T>C (p.Leu395Pro) n.2780T>C c.1259T>C (p.Leu420Pro) c.1211T>C (p.Leu404Pro) c.1136T>C (p.Leu379Pro) c.1079T>C (p.Leu360Pro) | ClinVar dbSNP |
| 3 | g.30672367T>G | CA351808717 | TGFBR2 | c.1184T>G (p.Leu395Arg) n.2780T>G c.1259T>G (p.Leu420Arg) c.1211T>G (p.Leu404Arg) c.1136T>G (p.Leu379Arg) c.1079T>G (p.Leu360Arg) | |
| 3 | g.30672368G>A | CA432917625 | TGFBR2 | c.1185G>A (p.Leu395=) n.2781G>A c.1260G>A (p.Leu420=) c.1212G>A (p.Leu404=) c.1137G>A (p.Leu379=) c.1080G>A (p.Leu360=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672368G>C | CA020633 | TGFBR2 | c.1185G>C (p.Leu395=) n.2781G>C c.1260G>C (p.Leu420=) c.1212G>C (p.Leu404=) c.1137G>C (p.Leu379=) c.1080G>C (p.Leu360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672368G= | CA1354873262 | TGFBR2 | c.1185G= (p.Leu395=) n.2781G= c.1260G= (p.Leu420=) c.1212G= (p.Leu404=) c.1137G= (p.Leu379=) c.1080G= (p.Leu360=) | |
| 3 | g.30672368G>T | CA432917624 | TGFBR2 | c.1185G>T (p.Leu395=) n.2781G>T c.1260G>T (p.Leu420=) c.1212G>T (p.Leu404=) c.1137G>T (p.Leu379=) c.1080G>T (p.Leu360=) | ClinVar dbSNP |
| 3 | g.30672369T>A | CA351808718 | TGFBR2 | c.1186T>A (p.Cys396Ser) n.2782T>A c.1261T>A (p.Cys421Ser) c.1213T>A (p.Cys405Ser) c.1138T>A (p.Cys380Ser) c.1081T>A (p.Cys361Ser) | dbSNP |
| 3 | g.30672369T>C | CA351808719 | TGFBR2 | c.1186T>C (p.Cys396Arg) n.2782T>C c.1261T>C (p.Cys421Arg) c.1213T>C (p.Cys405Arg) c.1138T>C (p.Cys380Arg) c.1081T>C (p.Cys361Arg) | dbSNP |
| 3 | g.30672369T>G | CA351808720 | TGFBR2 | c.1186T>G (p.Cys396Gly) n.2782T>G c.1261T>G (p.Cys421Gly) c.1213T>G (p.Cys405Gly) c.1138T>G (p.Cys380Gly) c.1081T>G (p.Cys361Gly) | |
| 3 | g.30672370G>A | CA351808723 | TGFBR2 | c.1187G>A (p.Cys396Tyr) n.2783G>A c.1262G>A (p.Cys421Tyr) c.1214G>A (p.Cys405Tyr) c.1139G>A (p.Cys380Tyr) c.1082G>A (p.Cys361Tyr) | ClinVar dbSNP |
| 3 | g.30672370G>C | CA351808722 | TGFBR2 | c.1187G>C (p.Cys396Ser) n.2783G>C c.1262G>C (p.Cys421Ser) c.1214G>C (p.Cys405Ser) c.1139G>C (p.Cys380Ser) c.1082G>C (p.Cys361Ser) | dbSNP |
| 3 | g.30672370G>T | CA351808721 | TGFBR2 | c.1187G>T (p.Cys396Phe) n.2783G>T c.1262G>T (p.Cys421Phe) c.1214G>T (p.Cys405Phe) c.1139G>T (p.Cys380Phe) c.1082G>T (p.Cys361Phe) | |
| 3 | g.30672371T>A | CA351808724 | TGFBR2 | c.1188T>A (p.Cys396Ter) n.2784T>A c.1263T>A (p.Cys421Ter) c.1215T>A (p.Cys405Ter) c.1140T>A (p.Cys380Ter) c.1083T>A (p.Cys361Ter) | dbSNP |
| 3 | g.30672371T>C | CA432917626 | TGFBR2 | c.1188T>C (p.Cys396=) n.2784T>C c.1263T>C (p.Cys421=) c.1215T>C (p.Cys405=) c.1140T>C (p.Cys380=) c.1083T>C (p.Cys361=) | dbSNP |
| 3 | g.30672371T>G | CA351808725 | TGFBR2 | c.1188T>G (p.Cys396Trp) n.2784T>G c.1263T>G (p.Cys421Trp) c.1215T>G (p.Cys405Trp) c.1140T>G (p.Cys380Trp) c.1083T>G (p.Cys361Trp) | dbSNP |
| 3 | g.30672372G>A | CA10587567 | TGFBR2 | c.1189G>A (p.Asp397Asn) n.2785G>A c.1264G>A (p.Asp422Asn) c.1216G>A (p.Asp406Asn) c.1141G>A (p.Asp381Asn) c.1084G>A (p.Asp362Asn) | ClinVar dbSNP |
| 3 | g.30672372G>C | CA351808726 | TGFBR2 | c.1189G>C (p.Asp397His) n.2785G>C c.1264G>C (p.Asp422His) c.1216G>C (p.Asp406His) c.1141G>C (p.Asp381His) c.1084G>C (p.Asp362His) | dbSNP |
| 3 | g.30672372G= | CA1354873263 | TGFBR2 | c.1189G= (p.Asp397=) n.2785G= c.1264G= (p.Asp422=) c.1216G= (p.Asp406=) c.1141G= (p.Asp381=) c.1084G= (p.Asp362=) | |
| 3 | g.30672372G>T | CA322774 | TGFBR2 | c.1189G>T (p.Asp397Tyr) n.2785G>T c.1264G>T (p.Asp422Tyr) c.1216G>T (p.Asp406Tyr) c.1141G>T (p.Asp381Tyr) c.1084G>T (p.Asp362Tyr) | ClinVar dbSNP |
| 3 | g.30672373A= | CA1354873264 | TGFBR2 | c.1190A= (p.Asp397=) n.2786A= c.1265A= (p.Asp422=) c.1217A= (p.Asp406=) c.1142A= (p.Asp381=) c.1085A= (p.Asp362=) | |
| 3 | g.30672373A>C | CA351808727 | TGFBR2 | c.1190A>C (p.Asp397Ala) n.2786A>C c.1265A>C (p.Asp422Ala) c.1217A>C (p.Asp406Ala) c.1142A>C (p.Asp381Ala) c.1085A>C (p.Asp362Ala) | dbSNP |
| 3 | g.30672373A>G | CA325083 | TGFBR2 | c.1190A>G (p.Asp397Gly) n.2786A>G c.1265A>G (p.Asp422Gly) c.1217A>G (p.Asp406Gly) c.1142A>G (p.Asp381Gly) c.1085A>G (p.Asp362Gly) | ClinVar dbSNP |