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.30674105G>A | CA351808871 | TGFBR2 | c.1255G>A (p.Val419Met) n.2851G>A n.133G>A c.1330G>A (p.Val444Met) c.1282G>A (p.Val428Met) c.1207G>A (p.Val403Met) c.1150G>A (p.Val384Met) | dbSNP |
| 3 | g.30674105G>C | CA351808872 | TGFBR2 | c.1255G>C (p.Val419Leu) n.2851G>C n.133G>C c.1330G>C (p.Val444Leu) c.1282G>C (p.Val428Leu) c.1207G>C (p.Val403Leu) c.1150G>C (p.Val384Leu) | ClinVar dbSNP |
| 3 | g.30674105G= | CA1354873982 | TGFBR2 | c.1255G= (p.Val419=) n.2851G= n.133G= c.1330G= (p.Val444=) c.1282G= (p.Val428=) c.1207G= (p.Val403=) c.1150G= (p.Val384=) | |
| 3 | g.30674105G>T | CA322630 | TGFBR2 | c.1255G>T (p.Val419Leu) n.2851G>T n.133G>T c.1330G>T (p.Val444Leu) c.1282G>T (p.Val428Leu) c.1207G>T (p.Val403Leu) c.1150G>T (p.Val384Leu) | ClinVar dbSNP |
| 3 | g.30674106T>A | CA324927 | TGFBR2 | c.1256T>A (p.Val419Glu) n.2852T>A n.134T>A c.1331T>A (p.Val444Glu) c.1283T>A (p.Val428Glu) c.1208T>A (p.Val403Glu) c.1151T>A (p.Val384Glu) | ClinVar dbSNP |
| 3 | g.30674106T>C | CA351808873 | TGFBR2 | c.1256T>C (p.Val419Ala) n.2852T>C n.134T>C c.1331T>C (p.Val444Ala) c.1283T>C (p.Val428Ala) c.1208T>C (p.Val403Ala) c.1151T>C (p.Val384Ala) | |
| 3 | g.30674106T>G | CA351808874 | TGFBR2 | c.1256T>G (p.Val419Gly) n.2852T>G n.134T>G c.1331T>G (p.Val444Gly) c.1283T>G (p.Val428Gly) c.1208T>G (p.Val403Gly) c.1151T>G (p.Val384Gly) | dbSNP |
| 3 | g.30674106T= | CA1354873983 | TGFBR2 | c.1256T= (p.Val419=) n.2852T= n.134T= c.1331T= (p.Val444=) c.1283T= (p.Val428=) c.1208T= (p.Val403=) c.1151T= (p.Val384=) | |
| 3 | g.30674107G>A | CA432917685 | TGFBR2 | c.1257G>A (p.Val419=) n.2853G>A n.135G>A c.1332G>A (p.Val444=) c.1284G>A (p.Val428=) c.1209G>A (p.Val403=) c.1152G>A (p.Val384=) | dbSNP |
| 3 | g.30674107G>C | CA432917684 | TGFBR2 | c.1257G>C (p.Val419=) n.2853G>C n.135G>C c.1332G>C (p.Val444=) c.1284G>C (p.Val428=) c.1209G>C (p.Val403=) c.1152G>C (p.Val384=) | dbSNP |
| 3 | g.30674107G>T | CA432917683 | TGFBR2 | c.1257G>T (p.Val419=) n.2853G>T n.135G>T c.1332G>T (p.Val444=) c.1284G>T (p.Val428=) c.1209G>T (p.Val403=) c.1152G>T (p.Val384=) | dbSNP COSMIC COSMIC |
| 3 | g.30674108G>A | CA351808875 | TGFBR2 | c.1258G>A (p.Gly420Arg) n.2854G>A n.136G>A c.1333G>A (p.Gly445Arg) c.1285G>A (p.Gly429Arg) c.1210G>A (p.Gly404Arg) c.1153G>A (p.Gly385Arg) | dbSNP |
| 3 | g.30674108G>C | CA351808876 | TGFBR2 | c.1258G>C (p.Gly420Arg) n.2854G>C n.136G>C c.1333G>C (p.Gly445Arg) c.1285G>C (p.Gly429Arg) c.1210G>C (p.Gly404Arg) c.1153G>C (p.Gly385Arg) | dbSNP |
| 3 | g.30674108G>T | CA351808877 | TGFBR2 | c.1258G>T (p.Gly420Ter) n.2854G>T n.136G>T c.1333G>T (p.Gly445Ter) c.1285G>T (p.Gly429Ter) c.1210G>T (p.Gly404Ter) c.1153G>T (p.Gly385Ter) | dbSNP |
| 3 | g.30674109G>A | CA351808878 | TGFBR2 | c.1259G>A (p.Gly420Glu) n.2855G>A n.137G>A c.1334G>A (p.Gly445Glu) c.1286G>A (p.Gly429Glu) c.1211G>A (p.Gly404Glu) c.1154G>A (p.Gly385Glu) | dbSNP |
| 3 | g.30674109G>C | CA351808879 | TGFBR2 | c.1259G>C (p.Gly420Ala) n.2855G>C n.137G>C c.1334G>C (p.Gly445Ala) c.1286G>C (p.Gly429Ala) c.1211G>C (p.Gly404Ala) c.1154G>C (p.Gly385Ala) | dbSNP |
| 3 | g.30674109G= | CA1354873984 | TGFBR2 | c.1259G= (p.Gly420=) n.2855G= n.137G= c.1334G= (p.Gly445=) c.1286G= (p.Gly429=) c.1211G= (p.Gly404=) c.1154G= (p.Gly385=) | |
| 3 | g.30674109G>T | CA351808880 | TGFBR2 | c.1259G>T (p.Gly420Val) n.2855G>T n.137G>T c.1334G>T (p.Gly445Val) c.1286G>T (p.Gly429Val) c.1211G>T (p.Gly404Val) c.1154G>T (p.Gly385Val) | ClinVar dbSNP |
| 3 | g.30674110A>C | CA432917686 | TGFBR2 | c.1260A>C (p.Gly420=) n.2856A>C n.138A>C c.1335A>C (p.Gly445=) c.1287A>C (p.Gly429=) c.1212A>C (p.Gly404=) c.1155A>C (p.Gly385=) | |
| 3 | g.30674110A>G | CA432917688 | TGFBR2 | c.1260A>G (p.Gly420=) n.2856A>G n.138A>G c.1335A>G (p.Gly445=) c.1287A>G (p.Gly429=) c.1212A>G (p.Gly404=) c.1155A>G (p.Gly385=) | |
| 3 | g.30674110A>T | CA432917687 | TGFBR2 | c.1260A>T (p.Gly420=) n.2856A>T n.138A>T c.1335A>T (p.Gly445=) c.1287A>T (p.Gly429=) c.1212A>T (p.Gly404=) c.1155A>T (p.Gly385=) | dbSNP |
| 3 | g.30674111A= | CA1354873985 | TGFBR2 | c.1261A= (p.Thr421=) n.2857A= n.139A= c.1336A= (p.Thr446=) c.1288A= (p.Thr430=) c.1213A= (p.Thr405=) c.1156A= (p.Thr386=) | |
| 3 | g.30674111A>C | CA351808881 | TGFBR2 | c.1261A>C (p.Thr421Pro) n.2857A>C n.139A>C c.1336A>C (p.Thr446Pro) c.1288A>C (p.Thr430Pro) c.1213A>C (p.Thr405Pro) c.1156A>C (p.Thr386Pro) | |
| 3 | g.30674111A>G | CA10587570 | TGFBR2 | c.1261A>G (p.Thr421Ala) n.2857A>G n.139A>G c.1336A>G (p.Thr446Ala) c.1288A>G (p.Thr430Ala) c.1213A>G (p.Thr405Ala) c.1156A>G (p.Thr386Ala) | ClinVar dbSNP |
| 3 | g.30674111A>T | CA351808882 | TGFBR2 | c.1261A>T (p.Thr421Ser) n.2857A>T n.139A>T c.1336A>T (p.Thr446Ser) c.1288A>T (p.Thr430Ser) c.1213A>T (p.Thr405Ser) c.1156A>T (p.Thr386Ser) | dbSNP |
| 3 | g.30674112C>A | CA351808883 | TGFBR2 | c.1262C>A (p.Thr421Asn) n.2858C>A n.140C>A c.1337C>A (p.Thr446Asn) c.1289C>A (p.Thr430Asn) c.1214C>A (p.Thr405Asn) c.1157C>A (p.Thr386Asn) | dbSNP |
| 3 | g.30674112C>G | CA351808884 | TGFBR2 | c.1262C>G (p.Thr421Ser) n.2858C>G n.140C>G c.1337C>G (p.Thr446Ser) c.1289C>G (p.Thr430Ser) c.1214C>G (p.Thr405Ser) c.1157C>G (p.Thr386Ser) | dbSNP |
| 3 | g.30674112C>T | CA351808885 | TGFBR2 | c.1262C>T (p.Thr421Ile) n.2858C>T n.140C>T c.1337C>T (p.Thr446Ile) c.1289C>T (p.Thr430Ile) c.1214C>T (p.Thr405Ile) c.1157C>T (p.Thr386Ile) | dbSNP |
| 3 | g.30674113T>A | CA432917689 | TGFBR2 | c.1263T>A (p.Thr421=) n.2859T>A n.141T>A c.1338T>A (p.Thr446=) c.1290T>A (p.Thr430=) c.1215T>A (p.Thr405=) c.1158T>A (p.Thr386=) | dbSNP |
| 3 | g.30674113T>C | CA432917690 | TGFBR2 | c.1263T>C (p.Thr421=) n.2859T>C n.141T>C c.1338T>C (p.Thr446=) c.1290T>C (p.Thr430=) c.1215T>C (p.Thr405=) c.1158T>C (p.Thr386=) | dbSNP |
| 3 | g.30674113T>G | CA432917691 | TGFBR2 | c.1263T>G (p.Thr421=) n.2859T>G n.141T>G c.1338T>G (p.Thr446=) c.1290T>G (p.Thr430=) c.1215T>G (p.Thr405=) c.1158T>G (p.Thr386=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674113T= | CA1354873986 | TGFBR2 | c.1263T= (p.Thr421=) n.2859T= n.141T= c.1338T= (p.Thr446=) c.1290T= (p.Thr430=) c.1215T= (p.Thr405=) c.1158T= (p.Thr386=) | |
| 3 | g.30674114G>A | CA351808886 | TGFBR2 | c.1264G>A (p.Ala422Thr) n.2860G>A n.142G>A c.1339G>A (p.Ala447Thr) c.1291G>A (p.Ala431Thr) c.1216G>A (p.Ala406Thr) c.1159G>A (p.Ala387Thr) | dbSNP COSMIC COSMIC |
| 3 | g.30674114G>C | CA351808887 | TGFBR2 | c.1264G>C (p.Ala422Pro) n.2860G>C n.142G>C c.1339G>C (p.Ala447Pro) c.1291G>C (p.Ala431Pro) c.1216G>C (p.Ala406Pro) c.1159G>C (p.Ala387Pro) | dbSNP |
| 3 | g.30674114G>T | CA351808888 | TGFBR2 | c.1264G>T (p.Ala422Ser) n.2860G>T n.142G>T c.1339G>T (p.Ala447Ser) c.1291G>T (p.Ala431Ser) c.1216G>T (p.Ala406Ser) c.1159G>T (p.Ala387Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674115C>A | CA351808889 | TGFBR2 | c.1265C>A (p.Ala422Glu) n.2861C>A n.143C>A c.1340C>A (p.Ala447Glu) c.1292C>A (p.Ala431Glu) c.1217C>A (p.Ala406Glu) c.1160C>A (p.Ala387Glu) | ClinVar dbSNP |
| 3 | g.30674115C= | CA1354873987 | TGFBR2 | c.1265C= (p.Ala422=) n.2861C= n.143C= c.1340C= (p.Ala447=) c.1292C= (p.Ala431=) c.1217C= (p.Ala406=) c.1160C= (p.Ala387=) | |
| 3 | g.30674115C>G | CA351808890 | TGFBR2 | c.1265C>G (p.Ala422Gly) n.2861C>G n.143C>G c.1340C>G (p.Ala447Gly) c.1292C>G (p.Ala431Gly) c.1217C>G (p.Ala406Gly) c.1160C>G (p.Ala387Gly) | dbSNP |
| 3 | g.30674115C>T | CA351808891 | TGFBR2 | c.1265C>T (p.Ala422Val) n.2861C>T n.143C>T c.1340C>T (p.Ala447Val) c.1292C>T (p.Ala431Val) c.1217C>T (p.Ala406Val) c.1160C>T (p.Ala387Val) | dbSNP gnomAD v4 |
| 3 | g.30674116A= | CA1354873988 | TGFBR2 | c.1266A= (p.Ala422=) n.2862A= n.144A= c.1341A= (p.Ala447=) c.1293A= (p.Ala431=) c.1218A= (p.Ala406=) c.1161A= (p.Ala387=) | |
| 3 | g.30674116A>C | CA432917692 | TGFBR2 | c.1266A>C (p.Ala422=) n.2862A>C n.144A>C c.1341A>C (p.Ala447=) c.1293A>C (p.Ala431=) c.1218A>C (p.Ala406=) c.1161A>C (p.Ala387=) | |
| 3 | g.30674116A>G | CA020636 | TGFBR2 | c.1266A>G (p.Ala422=) n.2862A>G n.144A>G c.1341A>G (p.Ala447=) c.1293A>G (p.Ala431=) c.1218A>G (p.Ala406=) c.1161A>G (p.Ala387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674116A>T | CA432917693 | TGFBR2 | c.1266A>T (p.Ala422=) n.2862A>T n.144A>T c.1341A>T (p.Ala447=) c.1293A>T (p.Ala431=) c.1218A>T (p.Ala406=) c.1161A>T (p.Ala387=) | |
| 3 | g.30674117_30674119dup | CA915941891 | TGFBR2 | c.1267_1269dup (p.Arg423_Tyr424insArg) n.2863_2865dup n.145_147dup c.1342_1344dup (p.Arg448_Tyr449insArg) c.1294_1296dup (p.Arg432_Tyr433insArg) c.1219_1221dup (p.Arg407_Tyr408insArg) c.1162_1164dup (p.Arg388_Tyr389insArg) | ClinVar dbSNP |
| 3 | g.30674117A= | CA1354873989 | TGFBR2 | c.1267A= (p.Arg423=) n.2863A= n.145A= c.1342A= (p.Arg448=) c.1294A= (p.Arg432=) c.1219A= (p.Arg407=) c.1162A= (p.Arg388=) | |
| 3 | g.30674117A>C | CA432917694 | TGFBR2 | c.1267A>C (p.Arg423=) n.2863A>C n.145A>C c.1342A>C (p.Arg448=) c.1294A>C (p.Arg432=) c.1219A>C (p.Arg407=) c.1162A>C (p.Arg388=) | |
| 3 | g.30674117A>G | CA046200 | TGFBR2 | c.1267A>G (p.Arg423Gly) n.2863A>G n.145A>G c.1342A>G (p.Arg448Gly) c.1294A>G (p.Arg432Gly) c.1219A>G (p.Arg407Gly) c.1162A>G (p.Arg388Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30674117A>T | CA351808892 | TGFBR2 | c.1267A>T (p.Arg423Ter) n.2863A>T n.145A>T c.1342A>T (p.Arg448Ter) c.1294A>T (p.Arg432Ter) c.1219A>T (p.Arg407Ter) c.1162A>T (p.Arg388Ter) | dbSNP COSMIC COSMIC |
| 3 | g.30674118G>A | CA351808893 | TGFBR2 | c.1268G>A (p.Arg423Lys) n.2864G>A n.146G>A c.1343G>A (p.Arg448Lys) c.1295G>A (p.Arg432Lys) c.1220G>A (p.Arg407Lys) c.1163G>A (p.Arg388Lys) | dbSNP |
| 3 | g.30674118G>C | CA351808894 | TGFBR2 | c.1268G>C (p.Arg423Thr) n.2864G>C n.146G>C c.1343G>C (p.Arg448Thr) c.1295G>C (p.Arg432Thr) c.1220G>C (p.Arg407Thr) c.1163G>C (p.Arg388Thr) | dbSNP |