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.30672353C>A | CA351808686 | TGFBR2 | c.1170C>A (p.Asp390Glu) n.2766C>A c.1245C>A (p.Asp415Glu) c.1197C>A (p.Asp399Glu) c.1122C>A (p.Asp374Glu) c.1065C>A (p.Asp355Glu) | |
| 3 | g.30672353C= | CA1354873256 | TGFBR2 | c.1170C= (p.Asp390=) n.2766C= c.1245C= (p.Asp415=) c.1197C= (p.Asp399=) c.1122C= (p.Asp374=) c.1065C= (p.Asp355=) | |
| 3 | g.30672353C>G | CA351808687 | TGFBR2 | c.1170C>G (p.Asp390Glu) n.2766C>G c.1245C>G (p.Asp415Glu) c.1197C>G (p.Asp399Glu) c.1122C>G (p.Asp374Glu) c.1065C>G (p.Asp355Glu) | |
| 3 | g.30672353C>T | CA432917615 | TGFBR2 | c.1170C>T (p.Asp390=) n.2766C>T c.1245C>T (p.Asp415=) c.1197C>T (p.Asp399=) c.1122C>T (p.Asp374=) c.1065C>T (p.Asp355=) | ClinVar dbSNP |
| 3 | g.30672354C>A | CA351808688 | TGFBR2 | c.1171C>A (p.Leu391Ile) n.2767C>A c.1246C>A (p.Leu416Ile) c.1198C>A (p.Leu400Ile) c.1123C>A (p.Leu375Ile) c.1066C>A (p.Leu356Ile) | |
| 3 | g.30672354C= | CA1354873257 | TGFBR2 | c.1171C= (p.Leu391=) n.2767C= c.1246C= (p.Leu416=) c.1198C= (p.Leu400=) c.1123C= (p.Leu375=) c.1066C= (p.Leu356=) | |
| 3 | g.30672354C>G | CA045877 | TGFBR2 | c.1171C>G (p.Leu391Val) n.2767C>G c.1246C>G (p.Leu416Val) c.1198C>G (p.Leu400Val) c.1123C>G (p.Leu375Val) c.1066C>G (p.Leu356Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672354C>T | CA10582146 | TGFBR2 | c.1171C>T (p.Leu391=) n.2767C>T c.1246C>T (p.Leu416=) c.1198C>T (p.Leu400=) c.1123C>T (p.Leu375=) c.1066C>T (p.Leu356=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672355T>A | CA351808689 | TGFBR2 | c.1172T>A (p.Leu391Gln) n.2768T>A c.1247T>A (p.Leu416Gln) c.1199T>A (p.Leu400Gln) c.1124T>A (p.Leu375Gln) c.1067T>A (p.Leu356Gln) | |
| 3 | g.30672355T>C | CA351808690 | TGFBR2 | c.1172T>C (p.Leu391Pro) n.2768T>C c.1247T>C (p.Leu416Pro) c.1199T>C (p.Leu400Pro) c.1124T>C (p.Leu375Pro) c.1067T>C (p.Leu356Pro) | ClinVar |
| 3 | g.30672355T>G | CA351808691 | TGFBR2 | c.1172T>G (p.Leu391Arg) n.2768T>G c.1247T>G (p.Leu416Arg) c.1199T>G (p.Leu400Arg) c.1124T>G (p.Leu375Arg) c.1067T>G (p.Leu356Arg) | |
| 3 | g.30672356A= | CA1354873258 | TGFBR2 | c.1173A= (p.Leu391=) n.2769A= c.1248A= (p.Leu416=) c.1200A= (p.Leu400=) c.1125A= (p.Leu375=) c.1068A= (p.Leu356=) | |
| 3 | g.30672356A>C | CA432917616 | TGFBR2 | c.1173A>C (p.Leu391=) n.2769A>C c.1248A>C (p.Leu416=) c.1200A>C (p.Leu400=) c.1125A>C (p.Leu375=) c.1068A>C (p.Leu356=) | dbSNP |
| 3 | g.30672356A>G | CA71528877 | TGFBR2 | c.1173A>G (p.Leu391=) n.2769A>G c.1248A>G (p.Leu416=) c.1200A>G (p.Leu400=) c.1125A>G (p.Leu375=) c.1068A>G (p.Leu356=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672356A>T | CA432917617 | TGFBR2 | c.1173A>T (p.Leu391=) n.2769A>T c.1248A>T (p.Leu416=) c.1200A>T (p.Leu400=) c.1125A>T (p.Leu375=) c.1068A>T (p.Leu356=) | dbSNP |
| 3 | g.30672357A>C | CA351808693 | TGFBR2 | c.1174A>C (p.Thr392Pro) n.2770A>C c.1249A>C (p.Thr417Pro) c.1201A>C (p.Thr401Pro) c.1126A>C (p.Thr376Pro) c.1069A>C (p.Thr357Pro) | dbSNP |
| 3 | g.30672357A>G | CA351808694 | TGFBR2 | c.1174A>G (p.Thr392Ala) n.2770A>G c.1249A>G (p.Thr417Ala) c.1201A>G (p.Thr401Ala) c.1126A>G (p.Thr376Ala) c.1069A>G (p.Thr357Ala) | dbSNP |
| 3 | g.30672357A>T | CA351808692 | TGFBR2 | c.1174A>T (p.Thr392Ser) n.2770A>T c.1249A>T (p.Thr417Ser) c.1201A>T (p.Thr401Ser) c.1126A>T (p.Thr376Ser) c.1069A>T (p.Thr357Ser) | dbSNP |
| 3 | g.30672358C>A | CA351808695 | TGFBR2 | c.1175C>A (p.Thr392Asn) n.2771C>A c.1250C>A (p.Thr417Asn) c.1202C>A (p.Thr401Asn) c.1127C>A (p.Thr376Asn) c.1070C>A (p.Thr357Asn) | dbSNP |
| 3 | g.30672358C>G | CA351808696 | TGFBR2 | c.1175C>G (p.Thr392Ser) n.2771C>G c.1250C>G (p.Thr417Ser) c.1202C>G (p.Thr401Ser) c.1127C>G (p.Thr376Ser) c.1070C>G (p.Thr357Ser) | dbSNP |
| 3 | g.30672358C>T | CA351808697 | TGFBR2 | c.1175C>T (p.Thr392Ile) n.2771C>T c.1250C>T (p.Thr417Ile) c.1202C>T (p.Thr401Ile) c.1127C>T (p.Thr376Ile) c.1070C>T (p.Thr357Ile) | dbSNP |
| 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 |