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.30672198C>A | CA71528585 | TGFBR2 | c.1015C>A (p.Arg339=) n.2611C>A c.1090C>A (p.Arg364=) c.1042C>A (p.Arg348=) c.967C>A (p.Arg323=) c.910C>A (p.Arg304=) | dbSNP |
| 3 | g.30672198C= | CA1354873178 | TGFBR2 | c.1015C= (p.Arg339=) n.2611C= c.1090C= (p.Arg364=) c.1042C= (p.Arg348=) c.967C= (p.Arg323=) c.910C= (p.Arg304=) | |
| 3 | g.30672198C>G | CA351808367 | TGFBR2 | c.1015C>G (p.Arg339Gly) n.2611C>G c.1090C>G (p.Arg364Gly) c.1042C>G (p.Arg348Gly) c.967C>G (p.Arg323Gly) c.910C>G (p.Arg304Gly) | gnomAD v4 |
| 3 | g.30672198C>T | CA045395 | TGFBR2 | c.1015C>T (p.Arg339Trp) n.2611C>T c.1090C>T (p.Arg364Trp) c.1042C>T (p.Arg348Trp) c.967C>T (p.Arg323Trp) c.910C>T (p.Arg304Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672199G>A | CA045405 | TGFBR2 | c.1016G>A (p.Arg339Gln) n.2612G>A c.1091G>A (p.Arg364Gln) c.1043G>A (p.Arg348Gln) c.968G>A (p.Arg323Gln) c.911G>A (p.Arg304Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672199G>C | CA020579 | TGFBR2 | c.1016G>C (p.Arg339Pro) n.2612G>C c.1091G>C (p.Arg364Pro) c.1043G>C (p.Arg348Pro) c.968G>C (p.Arg323Pro) c.911G>C (p.Arg304Pro) | ClinVar dbSNP |
| 3 | g.30672199G= | CA1354873179 | TGFBR2 | c.1016G= (p.Arg339=) n.2612G= c.1091G= (p.Arg364=) c.1043G= (p.Arg348=) c.968G= (p.Arg323=) c.911G= (p.Arg304=) | |
| 3 | g.30672199G>T | CA323392 | TGFBR2 | c.1016G>T (p.Arg339Leu) n.2612G>T c.1091G>T (p.Arg364Leu) c.1043G>T (p.Arg348Leu) c.968G>T (p.Arg323Leu) c.911G>T (p.Arg304Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672200G>A | CA433058995 | TGFBR2 | c.1017G>A (p.Arg339=) n.2613G>A c.1092G>A (p.Arg364=) c.1044G>A (p.Arg348=) c.969G>A (p.Arg323=) c.912G>A (p.Arg304=) | dbSNP COSMIC |
| 3 | g.30672200G>C | CA433058997 | TGFBR2 | c.1017G>C (p.Arg339=) n.2613G>C c.1092G>C (p.Arg364=) c.1044G>C (p.Arg348=) c.969G>C (p.Arg323=) c.912G>C (p.Arg304=) | dbSNP |
| 3 | g.30672200G= | CA1354873180 | TGFBR2 | c.1017G= (p.Arg339=) n.2613G= c.1092G= (p.Arg364=) c.1044G= (p.Arg348=) c.969G= (p.Arg323=) c.912G= (p.Arg304=) | |
| 3 | g.30672200G>T | CA433058999 | TGFBR2 | c.1017G>T (p.Arg339=) n.2613G>T c.1092G>T (p.Arg364=) c.1044G>T (p.Arg348=) c.969G>T (p.Arg323=) c.912G>T (p.Arg304=) | dbSNP |
| 3 | g.30672201C>A | CA351808368 | TGFBR2 | c.1018C>A (p.His340Asn) n.2614C>A c.1093C>A (p.His365Asn) c.1045C>A (p.His349Asn) c.970C>A (p.His324Asn) c.913C>A (p.His305Asn) | |
| 3 | g.30672201C>G | CA351808369 | TGFBR2 | c.1018C>G (p.His340Asp) n.2614C>G c.1093C>G (p.His365Asp) c.1045C>G (p.His349Asp) c.970C>G (p.His324Asp) c.913C>G (p.His305Asp) | |
| 3 | g.30672201C>T | CA351808370 | TGFBR2 | c.1018C>T (p.His340Tyr) n.2614C>T c.1093C>T (p.His365Tyr) c.1045C>T (p.His349Tyr) c.970C>T (p.His324Tyr) c.913C>T (p.His305Tyr) | dbSNP |
| 3 | g.30672202A= | CA1354873181 | TGFBR2 | c.1019A= (p.His340=) n.2615A= c.1094A= (p.His365=) c.1046A= (p.His349=) c.971A= (p.His324=) c.914A= (p.His305=) | |
| 3 | g.30672202A>C | CA351808371 | TGFBR2 | c.1019A>C (p.His340Pro) n.2615A>C c.1094A>C (p.His365Pro) c.1046A>C (p.His349Pro) c.971A>C (p.His324Pro) c.914A>C (p.His305Pro) | |
| 3 | g.30672202A>G | CA351808372 | TGFBR2 | c.1019A>G (p.His340Arg) n.2615A>G c.1094A>G (p.His365Arg) c.1046A>G (p.His349Arg) c.971A>G (p.His324Arg) c.914A>G (p.His305Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672202A>T | CA351808373 | TGFBR2 | c.1019A>T (p.His340Leu) n.2615A>T c.1094A>T (p.His365Leu) c.1046A>T (p.His349Leu) c.971A>T (p.His324Leu) c.914A>T (p.His305Leu) | |
| 3 | g.30672203T>A | CA351808374 | TGFBR2 | c.1020T>A (p.His340Gln) n.2616T>A c.1095T>A (p.His365Gln) c.1047T>A (p.His349Gln) c.972T>A (p.His324Gln) c.915T>A (p.His305Gln) | |
| 3 | g.30672203T>C | CA433059003 | TGFBR2 | c.1020T>C (p.His340=) n.2616T>C c.1095T>C (p.His365=) c.1047T>C (p.His349=) c.972T>C (p.His324=) c.915T>C (p.His305=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672203T>G | CA351808375 | TGFBR2 | c.1020T>G (p.His340Gln) n.2616T>G c.1095T>G (p.His365Gln) c.1047T>G (p.His349Gln) c.972T>G (p.His324Gln) c.915T>G (p.His305Gln) | |
| 3 | g.30672203T= | CA1354873182 | TGFBR2 | c.1020T= (p.His340=) n.2616T= c.1095T= (p.His365=) c.1047T= (p.His349=) c.972T= (p.His324=) c.915T= (p.His305=) | |
| 3 | g.30672204G>A | CA351808376 | TGFBR2 | c.1021G>A (p.Val341Ile) n.2617G>A c.1096G>A (p.Val366Ile) c.1048G>A (p.Val350Ile) c.973G>A (p.Val325Ile) c.916G>A (p.Val306Ile) | dbSNP |
| 3 | g.30672204G>C | CA351808377 | TGFBR2 | c.1021G>C (p.Val341Leu) n.2617G>C c.1096G>C (p.Val366Leu) c.1048G>C (p.Val350Leu) c.973G>C (p.Val325Leu) c.916G>C (p.Val306Leu) | |
| 3 | g.30672204G>T | CA351808378 | TGFBR2 | c.1021G>T (p.Val341Phe) n.2617G>T c.1096G>T (p.Val366Phe) c.1048G>T (p.Val350Phe) c.973G>T (p.Val325Phe) c.916G>T (p.Val306Phe) | |
| 3 | g.30672205T>A | CA351808381 | TGFBR2 | c.1022T>A (p.Val341Asp) n.2618T>A c.1097T>A (p.Val366Asp) c.1049T>A (p.Val350Asp) c.974T>A (p.Val325Asp) c.917T>A (p.Val306Asp) | dbSNP |
| 3 | g.30672205T>C | CA351808380 | TGFBR2 | c.1022T>C (p.Val341Ala) n.2618T>C c.1097T>C (p.Val366Ala) c.1049T>C (p.Val350Ala) c.974T>C (p.Val325Ala) c.917T>C (p.Val306Ala) | |
| 3 | g.30672205T>G | CA351808379 | TGFBR2 | c.1022T>G (p.Val341Gly) n.2618T>G c.1097T>G (p.Val366Gly) c.1049T>G (p.Val350Gly) c.974T>G (p.Val325Gly) c.917T>G (p.Val306Gly) | dbSNP |
| 3 | g.30672206C>A | CA433059005 | TGFBR2 | c.1023C>A (p.Val341=) n.2619C>A c.1098C>A (p.Val366=) c.1050C>A (p.Val350=) c.975C>A (p.Val325=) c.918C>A (p.Val306=) | dbSNP |
| 3 | g.30672206C>G | CA433059006 | TGFBR2 | c.1023C>G (p.Val341=) n.2619C>G c.1098C>G (p.Val366=) c.1050C>G (p.Val350=) c.975C>G (p.Val325=) c.918C>G (p.Val306=) | |
| 3 | g.30672206C>T | CA433059007 | TGFBR2 | c.1023C>T (p.Val341=) n.2619C>T c.1098C>T (p.Val366=) c.1050C>T (p.Val350=) c.975C>T (p.Val325=) c.918C>T (p.Val306=) | dbSNP gnomAD v4 |
| 3 | g.30672207A= | CA1354873183 | TGFBR2 | c.1024A= (p.Ile342=) n.2620A= c.1099A= (p.Ile367=) c.1051A= (p.Ile351=) c.976A= (p.Ile326=) c.919A= (p.Ile307=) | |
| 3 | g.30672207A>C | CA351808382 | TGFBR2 | c.1024A>C (p.Ile342Leu) n.2620A>C c.1099A>C (p.Ile367Leu) c.1051A>C (p.Ile351Leu) c.976A>C (p.Ile326Leu) c.919A>C (p.Ile307Leu) | |
| 3 | g.30672207A>G | CA351808383 | TGFBR2 | c.1024A>G (p.Ile342Val) n.2620A>G c.1099A>G (p.Ile367Val) c.1051A>G (p.Ile351Val) c.976A>G (p.Ile326Val) c.919A>G (p.Ile307Val) | |
| 3 | g.30672207A>T | CA045424 | TGFBR2 | c.1024A>T (p.Ile342Phe) n.2620A>T c.1099A>T (p.Ile367Phe) c.1051A>T (p.Ile351Phe) c.976A>T (p.Ile326Phe) c.919A>T (p.Ile307Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672207dup | CA2586965654 | TGFBR2 | c.1024dup (p.Ile342AsnfsTer23) n.2620dup c.1099dup (p.Ile367AsnfsTer23) c.1051dup (p.Ile351AsnfsTer23) c.976dup (p.Ile326AsnfsTer23) c.919dup (p.Ile307AsnfsTer23) | |
| 3 | g.30672208T>A | CA351808384 | TGFBR2 | c.1025T>A (p.Ile342Asn) n.2621T>A c.1100T>A (p.Ile367Asn) c.1052T>A (p.Ile351Asn) c.977T>A (p.Ile326Asn) c.920T>A (p.Ile307Asn) | |
| 3 | g.30672208T>C | CA351808385 | TGFBR2 | c.1025T>C (p.Ile342Thr) n.2621T>C c.1100T>C (p.Ile367Thr) c.1052T>C (p.Ile351Thr) c.977T>C (p.Ile326Thr) c.920T>C (p.Ile307Thr) | |
| 3 | g.30672208T>G | CA351808386 | TGFBR2 | c.1025T>G (p.Ile342Ser) n.2621T>G c.1100T>G (p.Ile367Ser) c.1052T>G (p.Ile351Ser) c.977T>G (p.Ile326Ser) c.920T>G (p.Ile307Ser) | |
| 3 | g.30672209C>A | CA433059009 | TGFBR2 | c.1026C>A (p.Ile342=) n.2622C>A c.1101C>A (p.Ile367=) c.1053C>A (p.Ile351=) c.978C>A (p.Ile326=) c.921C>A (p.Ile307=) | dbSNP |
| 3 | g.30672209C>G | CA351808387 | TGFBR2 | c.1026C>G (p.Ile342Met) n.2622C>G c.1101C>G (p.Ile367Met) c.1053C>G (p.Ile351Met) c.978C>G (p.Ile326Met) c.921C>G (p.Ile307Met) | |
| 3 | g.30672209C>T | CA433059010 | TGFBR2 | c.1026C>T (p.Ile342=) n.2622C>T c.1101C>T (p.Ile367=) c.1053C>T (p.Ile351=) c.978C>T (p.Ile326=) c.921C>T (p.Ile307=) | |
| 3 | g.30672210A= | CA1354873184 | TGFBR2 | c.1027A= (p.Ser343=) n.2623A= c.1102A= (p.Ser368=) c.1054A= (p.Ser352=) c.979A= (p.Ser327=) c.922A= (p.Ser308=) | |
| 3 | g.30672210A>C | CA351808388 | TGFBR2 | c.1027A>C (p.Ser343Arg) n.2623A>C c.1102A>C (p.Ser368Arg) c.1054A>C (p.Ser352Arg) c.979A>C (p.Ser327Arg) c.922A>C (p.Ser308Arg) | |
| 3 | g.30672210A>G | CA045437 | TGFBR2 | c.1027A>G (p.Ser343Gly) n.2623A>G c.1102A>G (p.Ser368Gly) c.1054A>G (p.Ser352Gly) c.979A>G (p.Ser327Gly) c.922A>G (p.Ser308Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672210A>T | CA351808389 | TGFBR2 | c.1027A>T (p.Ser343Cys) n.2623A>T c.1102A>T (p.Ser368Cys) c.1054A>T (p.Ser352Cys) c.979A>T (p.Ser327Cys) c.922A>T (p.Ser308Cys) | |
| 3 | g.30672211G>A | CA351808390 | TGFBR2 | c.1028G>A (p.Ser343Asn) n.2624G>A c.1103G>A (p.Ser368Asn) c.1055G>A (p.Ser352Asn) c.980G>A (p.Ser327Asn) c.923G>A (p.Ser308Asn) | dbSNP |
| 3 | g.30672211G>C | CA351808391 | TGFBR2 | c.1028G>C (p.Ser343Thr) n.2624G>C c.1103G>C (p.Ser368Thr) c.1055G>C (p.Ser352Thr) c.980G>C (p.Ser327Thr) c.923G>C (p.Ser308Thr) | |
| 3 | g.30672211G= | CA1354873185 | TGFBR2 | c.1028G= (p.Ser343=) n.2624G= c.1103G= (p.Ser368=) c.1055G= (p.Ser352=) c.980G= (p.Ser327=) c.923G= (p.Ser308=) |