WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30674136T>A | CA351808929 | TGFBR2 | c.1286T>A (p.Val429Asp) n.2882T>A n.164T>A c.1361T>A (p.Val454Asp) c.1313T>A (p.Val438Asp) c.1238T>A (p.Val413Asp) c.1181T>A (p.Val394Asp) | dbSNP |
| 3 | g.30674136T>C | CA351808930 | TGFBR2 | c.1286T>C (p.Val429Ala) n.2882T>C n.164T>C c.1361T>C (p.Val454Ala) c.1313T>C (p.Val438Ala) c.1238T>C (p.Val413Ala) c.1181T>C (p.Val394Ala) | |
| 3 | g.30674136T>G | CA351808931 | TGFBR2 | c.1286T>G (p.Val429Gly) n.2882T>G n.164T>G c.1361T>G (p.Val454Gly) c.1313T>G (p.Val438Gly) c.1238T>G (p.Val413Gly) c.1181T>G (p.Val394Gly) | dbSNP |
| 3 | g.30674136T= | CA1354874001 | TGFBR2 | c.1286T= (p.Val429=) n.2882T= n.164T= c.1361T= (p.Val454=) c.1313T= (p.Val438=) c.1238T= (p.Val413=) c.1181T= (p.Val394=) | |
| 3 | g.30674137C>A | CA432917704 | TGFBR2 | c.1287C>A (p.Val429=) n.2883C>A n.165C>A c.1362C>A (p.Val454=) c.1314C>A (p.Val438=) c.1239C>A (p.Val413=) c.1182C>A (p.Val394=) | dbSNP COSMIC COSMIC |
| 3 | g.30674137C= | CA1354874002 | TGFBR2 | c.1287C= (p.Val429=) n.2883C= n.165C= c.1362C= (p.Val454=) c.1314C= (p.Val438=) c.1239C= (p.Val413=) c.1182C= (p.Val394=) | |
| 3 | g.30674137C>G | CA432917705 | TGFBR2 | c.1287C>G (p.Val429=) n.2883C>G n.165C>G c.1362C>G (p.Val454=) c.1314C>G (p.Val438=) c.1239C>G (p.Val413=) c.1182C>G (p.Val394=) | dbSNP |
| 3 | g.30674137C>T | CA432917706 | TGFBR2 | c.1287C>T (p.Val429=) n.2883C>T n.165C>T c.1362C>T (p.Val454=) c.1314C>T (p.Val438=) c.1239C>T (p.Val413=) c.1182C>T (p.Val394=) | dbSNP |
| 3 | g.30674138C>A | CA351808932 | TGFBR2 | c.1288C>A (p.Leu430Ile) n.2884C>A n.166C>A c.1363C>A (p.Leu455Ile) c.1315C>A (p.Leu439Ile) c.1240C>A (p.Leu414Ile) c.1183C>A (p.Leu395Ile) | dbSNP |
| 3 | g.30674138C>G | CA351808933 | TGFBR2 | c.1288C>G (p.Leu430Val) n.2884C>G n.166C>G c.1363C>G (p.Leu455Val) c.1315C>G (p.Leu439Val) c.1240C>G (p.Leu414Val) c.1183C>G (p.Leu395Val) | dbSNP |
| 3 | g.30674138C>T | CA432917707 | TGFBR2 | c.1288C>T (p.Leu430=) n.2884C>T n.166C>T c.1363C>T (p.Leu455=) c.1315C>T (p.Leu439=) c.1240C>T (p.Leu414=) c.1183C>T (p.Leu395=) | dbSNP |
| 3 | g.30674139T>A | CA351808936 | TGFBR2 | c.1289T>A (p.Leu430Gln) n.2885T>A n.167T>A c.1364T>A (p.Leu455Gln) c.1316T>A (p.Leu439Gln) c.1241T>A (p.Leu414Gln) c.1184T>A (p.Leu395Gln) | dbSNP |
| 3 | g.30674139T>C | CA351808934 | TGFBR2 | c.1289T>C (p.Leu430Pro) n.2885T>C n.167T>C c.1364T>C (p.Leu455Pro) c.1316T>C (p.Leu439Pro) c.1241T>C (p.Leu414Pro) c.1184T>C (p.Leu395Pro) | ClinVar dbSNP |
| 3 | g.30674139T>G | CA351808935 | TGFBR2 | c.1289T>G (p.Leu430Arg) n.2885T>G n.167T>G c.1364T>G (p.Leu455Arg) c.1316T>G (p.Leu439Arg) c.1241T>G (p.Leu414Arg) c.1184T>G (p.Leu395Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30674139T= | CA1354874003 | TGFBR2 | c.1289T= (p.Leu430=) n.2885T= n.167T= c.1364T= (p.Leu455=) c.1316T= (p.Leu439=) c.1241T= (p.Leu414=) c.1184T= (p.Leu395=) | |
| 3 | g.30674140A>C | CA432917710 | TGFBR2 | c.1290A>C (p.Leu430=) n.2886A>C n.168A>C c.1365A>C (p.Leu455=) c.1317A>C (p.Leu439=) c.1242A>C (p.Leu414=) c.1185A>C (p.Leu395=) | |
| 3 | g.30674140A>G | CA432917708 | TGFBR2 | c.1290A>G (p.Leu430=) n.2886A>G n.168A>G c.1365A>G (p.Leu455=) c.1317A>G (p.Leu439=) c.1242A>G (p.Leu414=) c.1185A>G (p.Leu395=) | dbSNP |
| 3 | g.30674140A>T | CA432917709 | TGFBR2 | c.1290A>T (p.Leu430=) n.2886A>T n.168A>T c.1365A>T (p.Leu455=) c.1317A>T (p.Leu439=) c.1242A>T (p.Leu414=) c.1185A>T (p.Leu395=) | dbSNP |
| 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) |