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.30674232G>A | CA020670 | TGFBR2 | c.1382G>A (p.Cys461Tyr) n.2978G>A n.260G>A c.1457G>A (p.Cys486Tyr) c.1409G>A (p.Cys470Tyr) c.1334G>A (p.Cys445Tyr) c.1277G>A (p.Cys426Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674232G>C | CA351809143 | TGFBR2 | c.1382G>C (p.Cys461Ser) n.2978G>C n.260G>C c.1457G>C (p.Cys486Ser) c.1409G>C (p.Cys470Ser) c.1334G>C (p.Cys445Ser) c.1277G>C (p.Cys426Ser) | dbSNP |
| 3 | g.30674232G= | CA1354874037 | TGFBR2 | c.1382G= (p.Cys461=) n.2978G= n.260G= c.1457G= (p.Cys486=) c.1409G= (p.Cys470=) c.1334G= (p.Cys445=) c.1277G= (p.Cys426=) | |
| 3 | g.30674232G>T | CA351809144 | TGFBR2 | c.1382G>T (p.Cys461Phe) n.2978G>T n.260G>T c.1457G>T (p.Cys486Phe) c.1409G>T (p.Cys470Phe) c.1334G>T (p.Cys445Phe) c.1277G>T (p.Cys426Phe) | |
| 3 | g.30674233T>A | CA351809145 | TGFBR2 | c.1383T>A (p.Cys461Ter) n.2979T>A n.261T>A c.1458T>A (p.Cys486Ter) c.1410T>A (p.Cys470Ter) c.1335T>A (p.Cys445Ter) c.1278T>A (p.Cys426Ter) | dbSNP |
| 3 | g.30674233T>C | CA432917760 | TGFBR2 | c.1383T>C (p.Cys461=) n.2979T>C n.261T>C c.1458T>C (p.Cys486=) c.1410T>C (p.Cys470=) c.1335T>C (p.Cys445=) c.1278T>C (p.Cys426=) | dbSNP |
| 3 | g.30674233T>G | CA351809146 | TGFBR2 | c.1383T>G (p.Cys461Trp) n.2979T>G n.261T>G c.1458T>G (p.Cys486Trp) c.1410T>G (p.Cys470Trp) c.1335T>G (p.Cys445Trp) c.1278T>G (p.Cys426Trp) | |
| 3 | g.30674234A>C | CA351809147 | TGFBR2 | c.1384A>C (p.Asn462His) n.2980A>C n.262A>C c.1459A>C (p.Asn487His) c.1411A>C (p.Asn471His) c.1336A>C (p.Asn446His) c.1279A>C (p.Asn427His) | |
| 3 | g.30674234A>G | CA351809148 | TGFBR2 | c.1384A>G (p.Asn462Asp) n.2980A>G n.262A>G c.1459A>G (p.Asn487Asp) c.1411A>G (p.Asn471Asp) c.1336A>G (p.Asn446Asp) c.1279A>G (p.Asn427Asp) | |
| 3 | g.30674234A>T | CA351809149 | TGFBR2 | c.1384A>T (p.Asn462Tyr) n.2980A>T n.262A>T c.1459A>T (p.Asn487Tyr) c.1411A>T (p.Asn471Tyr) c.1336A>T (p.Asn446Tyr) c.1279A>T (p.Asn427Tyr) | dbSNP |
| 3 | g.30674235A>C | CA351809150 | TGFBR2 | c.1385A>C (p.Asn462Thr) n.2981A>C n.263A>C c.1460A>C (p.Asn487Thr) c.1412A>C (p.Asn471Thr) c.1337A>C (p.Asn446Thr) c.1280A>C (p.Asn427Thr) | |
| 3 | g.30674235A>G | CA351809152 | TGFBR2 | c.1385A>G (p.Asn462Ser) n.2981A>G n.263A>G c.1460A>G (p.Asn487Ser) c.1412A>G (p.Asn471Ser) c.1337A>G (p.Asn446Ser) c.1280A>G (p.Asn427Ser) | |
| 3 | g.30674235A>T | CA351809151 | TGFBR2 | c.1385A>T (p.Asn462Ile) n.2981A>T n.263A>T c.1460A>T (p.Asn487Ile) c.1412A>T (p.Asn471Ile) c.1337A>T (p.Asn446Ile) c.1280A>T (p.Asn427Ile) | |
| 3 | g.30674236T>A | CA351809153 | TGFBR2 | c.1386T>A (p.Asn462Lys) n.2982T>A n.264T>A c.1461T>A (p.Asn487Lys) c.1413T>A (p.Asn471Lys) c.1338T>A (p.Asn446Lys) c.1281T>A (p.Asn427Lys) | dbSNP |
| 3 | g.30674236T>C | CA432917761 | TGFBR2 | c.1386T>C (p.Asn462=) n.2982T>C n.264T>C c.1461T>C (p.Asn487=) c.1413T>C (p.Asn471=) c.1338T>C (p.Asn446=) c.1281T>C (p.Asn427=) | ClinVar |
| 3 | g.30674236T>G | CA351809154 | TGFBR2 | c.1386T>G (p.Asn462Lys) n.2982T>G n.264T>G c.1461T>G (p.Asn487Lys) c.1413T>G (p.Asn471Lys) c.1338T>G (p.Asn446Lys) c.1281T>G (p.Asn427Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674237G>A | CA351809155 | TGFBR2 | c.1387G>A (p.Ala463Thr) n.2983G>A n.265G>A c.1462G>A (p.Ala488Thr) c.1414G>A (p.Ala472Thr) c.1339G>A (p.Ala447Thr) c.1282G>A (p.Ala428Thr) | dbSNP |
| 3 | g.30674237G>C | CA351809157 | TGFBR2 | c.1387G>C (p.Ala463Pro) n.2983G>C n.265G>C c.1462G>C (p.Ala488Pro) c.1414G>C (p.Ala472Pro) c.1339G>C (p.Ala447Pro) c.1282G>C (p.Ala428Pro) | |
| 3 | g.30674237G>T | CA351809156 | TGFBR2 | c.1387G>T (p.Ala463Ser) n.2983G>T n.265G>T c.1462G>T (p.Ala488Ser) c.1414G>T (p.Ala472Ser) c.1339G>T (p.Ala447Ser) c.1282G>T (p.Ala428Ser) | dbSNP |
| 3 | g.30674238C>A | CA351809158 | TGFBR2 | c.1388C>A (p.Ala463Glu) n.2984C>A n.266C>A c.1463C>A (p.Ala488Glu) c.1415C>A (p.Ala472Glu) c.1340C>A (p.Ala447Glu) c.1283C>A (p.Ala428Glu) | |
| 3 | g.30674238C>G | CA351809160 | TGFBR2 | c.1388C>G (p.Ala463Gly) n.2984C>G n.266C>G c.1463C>G (p.Ala488Gly) c.1415C>G (p.Ala472Gly) c.1340C>G (p.Ala447Gly) c.1283C>G (p.Ala428Gly) | dbSNP |
| 3 | g.30674238C>T | CA351809159 | TGFBR2 | c.1388C>T (p.Ala463Val) n.2984C>T n.266C>T c.1463C>T (p.Ala488Val) c.1415C>T (p.Ala472Val) c.1340C>T (p.Ala447Val) c.1283C>T (p.Ala428Val) | dbSNP |
| 3 | g.30674239A= | CA1354874038 | TGFBR2 | c.1389A= (p.Ala463=) n.2985A= n.267A= c.1464A= (p.Ala488=) c.1416A= (p.Ala472=) c.1341A= (p.Ala447=) c.1284A= (p.Ala428=) | |
| 3 | g.30674239A>C | CA046400 | TGFBR2 | c.1389A>C (p.Ala463=) n.2985A>C n.267A>C c.1464A>C (p.Ala488=) c.1416A>C (p.Ala472=) c.1341A>C (p.Ala447=) c.1284A>C (p.Ala428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674239A>G | CA432917762 | TGFBR2 | c.1389A>G (p.Ala463=) n.2985A>G n.267A>G c.1464A>G (p.Ala488=) c.1416A>G (p.Ala472=) c.1341A>G (p.Ala447=) c.1284A>G (p.Ala428=) | dbSNP COSMIC COSMIC |
| 3 | g.30674239A>T | CA432917763 | TGFBR2 | c.1389A>T (p.Ala463=) n.2985A>T n.267A>T c.1464A>T (p.Ala488=) c.1416A>T (p.Ala472=) c.1341A>T (p.Ala447=) c.1284A>T (p.Ala428=) | |
| 3 | g.30674240G>A | CA351809161 | TGFBR2 | c.1390G>A (p.Val464Met) n.2986G>A n.268G>A c.1465G>A (p.Val489Met) c.1417G>A (p.Val473Met) c.1342G>A (p.Val448Met) c.1285G>A (p.Val429Met) | dbSNP |
| 3 | g.30674240G>C | CA351809162 | TGFBR2 | c.1390G>C (p.Val464Leu) n.2986G>C n.268G>C c.1465G>C (p.Val489Leu) c.1417G>C (p.Val473Leu) c.1342G>C (p.Val448Leu) c.1285G>C (p.Val429Leu) | dbSNP |
| 3 | g.30674240G>T | CA351809163 | TGFBR2 | c.1390G>T (p.Val464Leu) n.2986G>T n.268G>T c.1465G>T (p.Val489Leu) c.1417G>T (p.Val473Leu) c.1342G>T (p.Val448Leu) c.1285G>T (p.Val429Leu) | |
| 3 | g.30674241T>A | CA351809164 | TGFBR2 | c.1391T>A (p.Val464Glu) n.2987T>A n.269T>A c.1466T>A (p.Val489Glu) c.1418T>A (p.Val473Glu) c.1343T>A (p.Val448Glu) c.1286T>A (p.Val429Glu) | dbSNP |
| 3 | g.30674241T>C | CA351809165 | TGFBR2 | c.1391T>C (p.Val464Ala) n.2987T>C n.269T>C c.1466T>C (p.Val489Ala) c.1418T>C (p.Val473Ala) c.1343T>C (p.Val448Ala) c.1286T>C (p.Val429Ala) | |
| 3 | g.30674241T>G | CA351809166 | TGFBR2 | c.1391T>G (p.Val464Gly) n.2987T>G n.269T>G c.1466T>G (p.Val489Gly) c.1418T>G (p.Val473Gly) c.1343T>G (p.Val448Gly) c.1286T>G (p.Val429Gly) | |
| 3 | g.30674242G>A | CA432917764 | TGFBR2 | c.1392G>A (p.Val464=) n.2988G>A n.270G>A c.1467G>A (p.Val489=) c.1419G>A (p.Val473=) c.1344G>A (p.Val448=) c.1287G>A (p.Val429=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30674242G>C | CA432917765 | TGFBR2 | c.1392G>C (p.Val464=) n.2988G>C n.270G>C c.1467G>C (p.Val489=) c.1419G>C (p.Val473=) c.1344G>C (p.Val448=) c.1287G>C (p.Val429=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30674242G= | CA1354874039 | TGFBR2 | c.1392G= (p.Val464=) n.2988G= n.270G= c.1467G= (p.Val489=) c.1419G= (p.Val473=) c.1344G= (p.Val448=) c.1287G= (p.Val429=) | |
| 3 | g.30674242G>T | CA432917766 | TGFBR2 | c.1392G>T (p.Val464=) n.2988G>T n.270G>T c.1467G>T (p.Val489=) c.1419G>T (p.Val473=) c.1344G>T (p.Val448=) c.1287G>T (p.Val429=) | |
| 3 | g.30674243G>A | CA351809167 | TGFBR2 | c.1393G>A (p.Gly465Arg) n.2989G>A n.271G>A c.1468G>A (p.Gly490Arg) c.1420G>A (p.Gly474Arg) c.1345G>A (p.Gly449Arg) c.1288G>A (p.Gly430Arg) | gnomAD v4 |
| 3 | g.30674243G>C | CA351809168 | TGFBR2 | c.1393G>C (p.Gly465Arg) n.2989G>C n.271G>C c.1468G>C (p.Gly490Arg) c.1420G>C (p.Gly474Arg) c.1345G>C (p.Gly449Arg) c.1288G>C (p.Gly430Arg) | |
| 3 | g.30674243G= | CA1354874040 | TGFBR2 | c.1393G= (p.Gly465=) n.2989G= n.271G= c.1468G= (p.Gly490=) c.1420G= (p.Gly474=) c.1345G= (p.Gly449=) c.1288G= (p.Gly430=) | |
| 3 | g.30674243G>T | CA046409 | TGFBR2 | c.1393G>T (p.Gly465Ter) n.2989G>T n.271G>T c.1468G>T (p.Gly490Ter) c.1420G>T (p.Gly474Ter) c.1345G>T (p.Gly449Ter) c.1288G>T (p.Gly430Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674244G>A | CA351809171 | TGFBR2 | c.1394G>A (p.Gly465Glu) n.2990G>A n.272G>A c.1469G>A (p.Gly490Glu) c.1421G>A (p.Gly474Glu) c.1346G>A (p.Gly449Glu) c.1289G>A (p.Gly430Glu) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30674244G>C | CA351809170 | TGFBR2 | c.1394G>C (p.Gly465Ala) n.2990G>C n.272G>C c.1469G>C (p.Gly490Ala) c.1421G>C (p.Gly474Ala) c.1346G>C (p.Gly449Ala) c.1289G>C (p.Gly430Ala) | dbSNP |
| 3 | g.30674244G>T | CA351809169 | TGFBR2 | c.1394G>T (p.Gly465Val) n.2990G>T n.272G>T c.1469G>T (p.Gly490Val) c.1421G>T (p.Gly474Val) c.1346G>T (p.Gly449Val) c.1289G>T (p.Gly430Val) | |
| 3 | g.30674245A>C | CA432917767 | TGFBR2 | c.1395A>C (p.Gly465=) n.2991A>C n.273A>C c.1470A>C (p.Gly490=) c.1422A>C (p.Gly474=) c.1347A>C (p.Gly449=) c.1290A>C (p.Gly430=) | |
| 3 | g.30674245A>G | CA432917768 | TGFBR2 | c.1395A>G (p.Gly465=) n.2991A>G n.273A>G c.1470A>G (p.Gly490=) c.1422A>G (p.Gly474=) c.1347A>G (p.Gly449=) c.1290A>G (p.Gly430=) | dbSNP |
| 3 | g.30674245A>T | CA432917769 | TGFBR2 | c.1395A>T (p.Gly465=) n.2991A>T n.273A>T c.1470A>T (p.Gly490=) c.1422A>T (p.Gly474=) c.1347A>T (p.Gly449=) c.1290A>T (p.Gly430=) | dbSNP |
| 3 | g.30674246G>A | CA351809172 | TGFBR2 | c.1396G>A (p.Glu466Lys) n.2992G>A n.274G>A c.1471G>A (p.Glu491Lys) c.1423G>A (p.Glu475Lys) c.1348G>A (p.Glu450Lys) c.1291G>A (p.Glu431Lys) | dbSNP |
| 3 | g.30674246G>C | CA351809173 | TGFBR2 | c.1396G>C (p.Glu466Gln) n.2992G>C n.274G>C c.1471G>C (p.Glu491Gln) c.1423G>C (p.Glu475Gln) c.1348G>C (p.Glu450Gln) c.1291G>C (p.Glu431Gln) | |
| 3 | g.30674246G>T | CA351809174 | TGFBR2 | c.1396G>T (p.Glu466Ter) n.2992G>T n.274G>T c.1471G>T (p.Glu491Ter) c.1423G>T (p.Glu475Ter) c.1348G>T (p.Glu450Ter) c.1291G>T (p.Glu431Ter) | |
| 3 | g.30674247G>A | CA046428 | TGFBR2 | c.1396+1G>A (n.1396+1G>A) n.2992+1G>A n.274+1G>A c.1471+1G>A (n.1471+1G>A) c.1423+1G>A (n.1423+1G>A) c.1348+1G>A (n.1348+1G>A) c.1291+1G>A (n.1291+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |