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.30674141G>A | CA351808937 | TGFBR2 | c.1291G>A (p.Glu431Lys) n.2887G>A n.169G>A c.1366G>A (p.Glu456Lys) c.1318G>A (p.Glu440Lys) c.1243G>A (p.Glu415Lys) c.1186G>A (p.Glu396Lys) | dbSNP COSMIC COSMIC |
| 3 | g.30674141G>C | CA351808938 | TGFBR2 | c.1291G>C (p.Glu431Gln) n.2887G>C n.169G>C c.1366G>C (p.Glu456Gln) c.1318G>C (p.Glu440Gln) c.1243G>C (p.Glu415Gln) c.1186G>C (p.Glu396Gln) | dbSNP |
| 3 | g.30674141G>T | CA351808939 | TGFBR2 | c.1291G>T (p.Glu431Ter) n.2887G>T n.169G>T c.1366G>T (p.Glu456Ter) c.1318G>T (p.Glu440Ter) c.1243G>T (p.Glu415Ter) c.1186G>T (p.Glu396Ter) | dbSNP |
| 3 | g.30674142A>C | CA351808940 | TGFBR2 | c.1292A>C (p.Glu431Ala) n.2888A>C n.170A>C c.1367A>C (p.Glu456Ala) c.1319A>C (p.Glu440Ala) c.1244A>C (p.Glu415Ala) c.1187A>C (p.Glu396Ala) | |
| 3 | g.30674142A>G | CA351808941 | TGFBR2 | c.1292A>G (p.Glu431Gly) n.2888A>G n.170A>G c.1367A>G (p.Glu456Gly) c.1319A>G (p.Glu440Gly) c.1244A>G (p.Glu415Gly) c.1187A>G (p.Glu396Gly) | |
| 3 | g.30674142A>T | CA351808942 | TGFBR2 | c.1292A>T (p.Glu431Val) n.2888A>T n.170A>T c.1367A>T (p.Glu456Val) c.1319A>T (p.Glu440Val) c.1244A>T (p.Glu415Val) c.1187A>T (p.Glu396Val) | |
| 3 | g.30674143A= | CA1354874004 | TGFBR2 | c.1293A= (p.Glu431=) n.2889A= n.171A= c.1368A= (p.Glu456=) c.1320A= (p.Glu440=) c.1245A= (p.Glu415=) c.1188A= (p.Glu396=) | |
| 3 | g.30674143A>C | CA351808943 | TGFBR2 | c.1293A>C (p.Glu431Asp) n.2889A>C n.171A>C c.1368A>C (p.Glu456Asp) c.1320A>C (p.Glu440Asp) c.1245A>C (p.Glu415Asp) c.1188A>C (p.Glu396Asp) | |
| 3 | g.30674143A>G | CA046260 | TGFBR2 | c.1293A>G (p.Glu431=) n.2889A>G n.171A>G c.1368A>G (p.Glu456=) c.1320A>G (p.Glu440=) c.1245A>G (p.Glu415=) c.1188A>G (p.Glu396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674143A>T | CA351808944 | TGFBR2 | c.1293A>T (p.Glu431Asp) n.2889A>T n.171A>T c.1368A>T (p.Glu456Asp) c.1320A>T (p.Glu440Asp) c.1245A>T (p.Glu415Asp) c.1188A>T (p.Glu396Asp) | dbSNP |
| 3 | g.30674144T>A | CA351808945 | TGFBR2 | c.1294T>A (p.Ser432Thr) n.2890T>A n.172T>A c.1369T>A (p.Ser457Thr) c.1321T>A (p.Ser441Thr) c.1246T>A (p.Ser416Thr) c.1189T>A (p.Ser397Thr) | dbSNP |
| 3 | g.30674144T>C | CA351808946 | TGFBR2 | c.1294T>C (p.Ser432Pro) n.2890T>C n.172T>C c.1369T>C (p.Ser457Pro) c.1321T>C (p.Ser441Pro) c.1246T>C (p.Ser416Pro) c.1189T>C (p.Ser397Pro) | |
| 3 | g.30674144T>G | CA351808947 | TGFBR2 | c.1294T>G (p.Ser432Ala) n.2890T>G n.172T>G c.1369T>G (p.Ser457Ala) c.1321T>G (p.Ser441Ala) c.1246T>G (p.Ser416Ala) c.1189T>G (p.Ser397Ala) | dbSNP |
| 3 | g.30674145C>A | CA351808948 | TGFBR2 | c.1295C>A (p.Ser432Tyr) n.2891C>A n.173C>A c.1370C>A (p.Ser457Tyr) c.1322C>A (p.Ser441Tyr) c.1247C>A (p.Ser416Tyr) c.1190C>A (p.Ser397Tyr) | dbSNP |
| 3 | g.30674145C>G | CA351808950 | TGFBR2 | c.1295C>G (p.Ser432Cys) n.2891C>G n.173C>G c.1370C>G (p.Ser457Cys) c.1322C>G (p.Ser441Cys) c.1247C>G (p.Ser416Cys) c.1190C>G (p.Ser397Cys) | dbSNP |
| 3 | g.30674145C>T | CA351808949 | TGFBR2 | c.1295C>T (p.Ser432Phe) n.2891C>T n.173C>T c.1370C>T (p.Ser457Phe) c.1322C>T (p.Ser441Phe) c.1247C>T (p.Ser416Phe) c.1190C>T (p.Ser397Phe) | dbSNP |
| 3 | g.30674146C>A | CA432917711 | TGFBR2 | c.1296C>A (p.Ser432=) n.2892C>A n.174C>A c.1371C>A (p.Ser457=) c.1323C>A (p.Ser441=) c.1248C>A (p.Ser416=) c.1191C>A (p.Ser397=) | |
| 3 | g.30674146C>G | CA432917713 | TGFBR2 | c.1296C>G (p.Ser432=) n.2892C>G n.174C>G c.1371C>G (p.Ser457=) c.1323C>G (p.Ser441=) c.1248C>G (p.Ser416=) c.1191C>G (p.Ser397=) | dbSNP gnomAD v4 |
| 3 | g.30674146C>T | CA432917712 | TGFBR2 | c.1296C>T (p.Ser432=) n.2892C>T n.174C>T c.1371C>T (p.Ser457=) c.1323C>T (p.Ser441=) c.1248C>T (p.Ser416=) c.1191C>T (p.Ser397=) | ClinVar dbSNP |
| 3 | g.30674147A= | CA1354874005 | TGFBR2 | c.1297A= (p.Arg433=) n.2893A= n.175A= c.1372A= (p.Arg458=) c.1324A= (p.Arg442=) c.1249A= (p.Arg417=) c.1192A= (p.Arg398=) | |
| 3 | g.30674147A>C | CA432917714 | TGFBR2 | c.1297A>C (p.Arg433=) n.2893A>C n.175A>C c.1372A>C (p.Arg458=) c.1324A>C (p.Arg442=) c.1249A>C (p.Arg417=) c.1192A>C (p.Arg398=) | |
| 3 | g.30674147A>G | CA351808951 | TGFBR2 | c.1297A>G (p.Arg433Gly) n.2893A>G n.175A>G c.1372A>G (p.Arg458Gly) c.1324A>G (p.Arg442Gly) c.1249A>G (p.Arg417Gly) c.1192A>G (p.Arg398Gly) | dbSNP gnomAD v4 |
| 3 | g.30674147A>T | CA351808952 | TGFBR2 | c.1297A>T (p.Arg433Trp) n.2893A>T n.175A>T c.1372A>T (p.Arg458Trp) c.1324A>T (p.Arg442Trp) c.1249A>T (p.Arg417Trp) c.1192A>T (p.Arg398Trp) | dbSNP |
| 3 | g.30674148G>A | CA351808953 | TGFBR2 | c.1298G>A (p.Arg433Lys) n.2894G>A n.176G>A c.1373G>A (p.Arg458Lys) c.1325G>A (p.Arg442Lys) c.1250G>A (p.Arg417Lys) c.1193G>A (p.Arg398Lys) | dbSNP gnomAD v4 |
| 3 | g.30674148G>C | CA351808954 | TGFBR2 | c.1298G>C (p.Arg433Thr) n.2894G>C n.176G>C c.1373G>C (p.Arg458Thr) c.1325G>C (p.Arg442Thr) c.1250G>C (p.Arg417Thr) c.1193G>C (p.Arg398Thr) | ClinVar dbSNP |
| 3 | g.30674148G= | CA1354874006 | TGFBR2 | c.1298G= (p.Arg433=) n.2894G= n.176G= c.1373G= (p.Arg458=) c.1325G= (p.Arg442=) c.1250G= (p.Arg417=) c.1193G= (p.Arg398=) | |
| 3 | g.30674148G>T | CA351808955 | TGFBR2 | c.1298G>T (p.Arg433Met) n.2894G>T n.176G>T c.1373G>T (p.Arg458Met) c.1325G>T (p.Arg442Met) c.1250G>T (p.Arg417Met) c.1193G>T (p.Arg398Met) | dbSNP |
| 3 | g.30674149G>A | CA432917715 | TGFBR2 | c.1299G>A (p.Arg433=) n.2895G>A n.177G>A c.1374G>A (p.Arg458=) c.1326G>A (p.Arg442=) c.1251G>A (p.Arg417=) c.1194G>A (p.Arg398=) | dbSNP |
| 3 | g.30674149G>C | CA351808956 | TGFBR2 | c.1299G>C (p.Arg433Ser) n.2895G>C n.177G>C c.1374G>C (p.Arg458Ser) c.1326G>C (p.Arg442Ser) c.1251G>C (p.Arg417Ser) c.1194G>C (p.Arg398Ser) | dbSNP |
| 3 | g.30674149G>T | CA351808957 | TGFBR2 | c.1299G>T (p.Arg433Ser) n.2895G>T n.177G>T c.1374G>T (p.Arg458Ser) c.1326G>T (p.Arg442Ser) c.1251G>T (p.Arg417Ser) c.1194G>T (p.Arg398Ser) | dbSNP |
| 3 | g.30674150A= | CA1354874007 | TGFBR2 | c.1300A= (p.Met434=) n.2896A= n.178A= c.1375A= (p.Met459=) c.1327A= (p.Met443=) c.1252A= (p.Met418=) c.1195A= (p.Met399=) | |
| 3 | g.30674150A>C | CA351808958 | TGFBR2 | c.1300A>C (p.Met434Leu) n.2896A>C n.178A>C c.1375A>C (p.Met459Leu) c.1327A>C (p.Met443Leu) c.1252A>C (p.Met418Leu) c.1195A>C (p.Met399Leu) | |
| 3 | g.30674150A>G | CA351808959 | TGFBR2 | c.1300A>G (p.Met434Val) n.2896A>G n.178A>G c.1375A>G (p.Met459Val) c.1327A>G (p.Met443Val) c.1252A>G (p.Met418Val) c.1195A>G (p.Met399Val) | dbSNP |
| 3 | g.30674150A>T | CA351808960 | TGFBR2 | c.1300A>T (p.Met434Leu) n.2896A>T n.178A>T c.1375A>T (p.Met459Leu) c.1327A>T (p.Met443Leu) c.1252A>T (p.Met418Leu) c.1195A>T (p.Met399Leu) | ClinVar |
| 3 | g.30674151T>A | CA351808961 | TGFBR2 | c.1301T>A (p.Met434Lys) n.2897T>A n.179T>A c.1376T>A (p.Met459Lys) c.1328T>A (p.Met443Lys) c.1253T>A (p.Met418Lys) c.1196T>A (p.Met399Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674151T>C | CA351808962 | TGFBR2 | c.1301T>C (p.Met434Thr) n.2897T>C n.179T>C c.1376T>C (p.Met459Thr) c.1328T>C (p.Met443Thr) c.1253T>C (p.Met418Thr) c.1196T>C (p.Met399Thr) | ClinVar dbSNP |
| 3 | g.30674151T>G | CA351808963 | TGFBR2 | c.1301T>G (p.Met434Arg) n.2897T>G n.179T>G c.1376T>G (p.Met459Arg) c.1328T>G (p.Met443Arg) c.1253T>G (p.Met418Arg) c.1196T>G (p.Met399Arg) | dbSNP |
| 3 | g.30674151T= | CA1354874008 | TGFBR2 | c.1301T= (p.Met434=) n.2897T= n.179T= c.1376T= (p.Met459=) c.1328T= (p.Met443=) c.1253T= (p.Met418=) c.1196T= (p.Met399=) | |
| 3 | g.30674152G>A | CA351808964 | TGFBR2 | c.1302G>A (p.Met434Ile) n.2898G>A n.180G>A c.1377G>A (p.Met459Ile) c.1329G>A (p.Met443Ile) c.1254G>A (p.Met418Ile) c.1197G>A (p.Met399Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674152G>C | CA351808966 | TGFBR2 | c.1302G>C (p.Met434Ile) n.2898G>C n.180G>C c.1377G>C (p.Met459Ile) c.1329G>C (p.Met443Ile) c.1254G>C (p.Met418Ile) c.1197G>C (p.Met399Ile) | dbSNP |
| 3 | g.30674152G>T | CA351808965 | TGFBR2 | c.1302G>T (p.Met434Ile) n.2898G>T n.180G>T c.1377G>T (p.Met459Ile) c.1329G>T (p.Met443Ile) c.1254G>T (p.Met418Ile) c.1197G>T (p.Met399Ile) | dbSNP |
| 3 | g.30674153A= | CA1354874009 | TGFBR2 | c.1303A= (p.Asn435=) n.2899A= n.181A= c.1378A= (p.Asn460=) c.1330A= (p.Asn444=) c.1255A= (p.Asn419=) c.1198A= (p.Asn400=) | |
| 3 | g.30674153A>C | CA351808967 | TGFBR2 | c.1303A>C (p.Asn435His) n.2899A>C n.181A>C c.1378A>C (p.Asn460His) c.1330A>C (p.Asn444His) c.1255A>C (p.Asn419His) c.1198A>C (p.Asn400His) | |
| 3 | g.30674153A>G | CA351808968 | TGFBR2 | c.1303A>G (p.Asn435Asp) n.2899A>G n.181A>G c.1378A>G (p.Asn460Asp) c.1330A>G (p.Asn444Asp) c.1255A>G (p.Asn419Asp) c.1198A>G (p.Asn400Asp) | dbSNP |
| 3 | g.30674153A>T | CA351808969 | TGFBR2 | c.1303A>T (p.Asn435Tyr) n.2899A>T n.181A>T c.1378A>T (p.Asn460Tyr) c.1330A>T (p.Asn444Tyr) c.1255A>T (p.Asn419Tyr) c.1198A>T (p.Asn400Tyr) | |
| 3 | g.30674154A>C | CA351808970 | TGFBR2 | c.1304A>C (p.Asn435Thr) n.2900A>C n.182A>C c.1379A>C (p.Asn460Thr) c.1331A>C (p.Asn444Thr) c.1256A>C (p.Asn419Thr) c.1199A>C (p.Asn400Thr) | |
| 3 | g.30674154A>G | CA351808971 | TGFBR2 | c.1304A>G (p.Asn435Ser) n.2900A>G n.182A>G c.1379A>G (p.Asn460Ser) c.1331A>G (p.Asn444Ser) c.1256A>G (p.Asn419Ser) c.1199A>G (p.Asn400Ser) | |
| 3 | g.30674154A>T | CA351808972 | TGFBR2 | c.1304A>T (p.Asn435Ile) n.2900A>T n.182A>T c.1379A>T (p.Asn460Ile) c.1331A>T (p.Asn444Ile) c.1256A>T (p.Asn419Ile) c.1199A>T (p.Asn400Ile) | dbSNP |
| 3 | g.30674155T>A | CA351808973 | TGFBR2 | c.1305T>A (p.Asn435Lys) n.2901T>A n.183T>A c.1380T>A (p.Asn460Lys) c.1332T>A (p.Asn444Lys) c.1257T>A (p.Asn419Lys) c.1200T>A (p.Asn400Lys) | ClinVar dbSNP |
| 3 | g.30674155T>C | CA432917716 | TGFBR2 | c.1305T>C (p.Asn435=) n.2901T>C n.183T>C c.1380T>C (p.Asn460=) c.1332T>C (p.Asn444=) c.1257T>C (p.Asn419=) c.1200T>C (p.Asn400=) |