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.30672148G>A | CA351808265 | TGFBR2 | c.965G>A (p.Trp322Ter) n.2561G>A c.1040G>A (p.Trp347Ter) c.992G>A (p.Trp331Ter) c.917G>A (p.Trp306Ter) c.860G>A (p.Trp287Ter) | gnomAD v4 |
| 3 | g.30672148G>C | CA351808266 | TGFBR2 | c.965G>C (p.Trp322Ser) n.2561G>C c.1040G>C (p.Trp347Ser) c.992G>C (p.Trp331Ser) c.917G>C (p.Trp306Ser) c.860G>C (p.Trp287Ser) | |
| 3 | g.30672148G>T | CA351808267 | TGFBR2 | c.965G>T (p.Trp322Leu) n.2561G>T c.1040G>T (p.Trp347Leu) c.992G>T (p.Trp331Leu) c.917G>T (p.Trp306Leu) c.860G>T (p.Trp287Leu) | |
| 3 | g.30672149del | CA2702371006 | TGFBR2 | c.966del (p.Trp322CysfsTer2) n.2562del c.1041del (p.Trp347CysfsTer2) c.993del (p.Trp331CysfsTer2) c.918del (p.Trp306CysfsTer2) c.861del (p.Trp287CysfsTer2) | dbSNP |
| 3 | g.30672149G>A | CA351808268 | TGFBR2 | c.966G>A (p.Trp322Ter) n.2562G>A c.1041G>A (p.Trp347Ter) c.993G>A (p.Trp331Ter) c.918G>A (p.Trp306Ter) c.861G>A (p.Trp287Ter) | dbSNP gnomAD v4 |
| 3 | g.30672149G>C | CA351808269 | TGFBR2 | c.966G>C (p.Trp322Cys) n.2562G>C c.1041G>C (p.Trp347Cys) c.993G>C (p.Trp331Cys) c.918G>C (p.Trp306Cys) c.861G>C (p.Trp287Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672149G= | CA1354873153 | TGFBR2 | c.966G= (p.Trp322=) n.2562G= c.1041G= (p.Trp347=) c.993G= (p.Trp331=) c.918G= (p.Trp306=) c.861G= (p.Trp287=) | |
| 3 | g.30672149G>T | CA351808270 | TGFBR2 | c.966G>T (p.Trp322Cys) n.2562G>T c.1041G>T (p.Trp347Cys) c.993G>T (p.Trp331Cys) c.918G>T (p.Trp306Cys) c.861G>T (p.Trp287Cys) | dbSNP gnomAD v4 |
| 3 | g.30672150C>A | CA351808271 | TGFBR2 | c.967C>A (p.Leu323Met) n.2563C>A c.1042C>A (p.Leu348Met) c.994C>A (p.Leu332Met) c.919C>A (p.Leu307Met) c.862C>A (p.Leu288Met) | dbSNP |
| 3 | g.30672150C= | CA1354873154 | TGFBR2 | c.967C= (p.Leu323=) n.2563C= c.1042C= (p.Leu348=) c.994C= (p.Leu332=) c.919C= (p.Leu307=) c.862C= (p.Leu288=) | |
| 3 | g.30672150C>G | CA050696 | TGFBR2 | c.967C>G (p.Leu323Val) n.2563C>G c.1042C>G (p.Leu348Val) c.994C>G (p.Leu332Val) c.919C>G (p.Leu307Val) c.862C>G (p.Leu288Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672150C>T | CA433058956 | TGFBR2 | c.967C>T (p.Leu323=) n.2563C>T c.1042C>T (p.Leu348=) c.994C>T (p.Leu332=) c.919C>T (p.Leu307=) c.862C>T (p.Leu288=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672151T>A | CA351808274 | TGFBR2 | c.968T>A (p.Leu323Gln) n.2564T>A c.1043T>A (p.Leu348Gln) c.995T>A (p.Leu332Gln) c.920T>A (p.Leu307Gln) c.863T>A (p.Leu288Gln) | dbSNP |
| 3 | g.30672151T>C | CA351808273 | TGFBR2 | c.968T>C (p.Leu323Pro) n.2564T>C c.1043T>C (p.Leu348Pro) c.995T>C (p.Leu332Pro) c.920T>C (p.Leu307Pro) c.863T>C (p.Leu288Pro) | COSMIC COSMIC |
| 3 | g.30672151T>G | CA351808272 | TGFBR2 | c.968T>G (p.Leu323Arg) n.2564T>G c.1043T>G (p.Leu348Arg) c.995T>G (p.Leu332Arg) c.920T>G (p.Leu307Arg) c.863T>G (p.Leu288Arg) | ClinVar dbSNP |
| 3 | g.30672151T= | CA1354873155 | TGFBR2 | c.968T= (p.Leu323=) n.2564T= c.1043T= (p.Leu348=) c.995T= (p.Leu332=) c.920T= (p.Leu307=) c.863T= (p.Leu288=) | |
| 3 | g.30672152G>A | CA433058957 | TGFBR2 | c.969G>A (p.Leu323=) n.2565G>A c.1044G>A (p.Leu348=) c.996G>A (p.Leu332=) c.921G>A (p.Leu307=) c.864G>A (p.Leu288=) | dbSNP |
| 3 | g.30672152G>C | CA433058958 | TGFBR2 | c.969G>C (p.Leu323=) n.2565G>C c.1044G>C (p.Leu348=) c.996G>C (p.Leu332=) c.921G>C (p.Leu307=) c.864G>C (p.Leu288=) | dbSNP |
| 3 | g.30672152G>T | CA433058959 | TGFBR2 | c.969G>T (p.Leu323=) n.2565G>T c.1044G>T (p.Leu348=) c.996G>T (p.Leu332=) c.921G>T (p.Leu307=) c.864G>T (p.Leu288=) | |
| 3 | g.30672153A>C | CA351808275 | TGFBR2 | c.970A>C (p.Ile324Leu) n.2566A>C c.1045A>C (p.Ile349Leu) c.997A>C (p.Ile333Leu) c.922A>C (p.Ile308Leu) c.865A>C (p.Ile289Leu) | dbSNP |
| 3 | g.30672153A>G | CA351808276 | TGFBR2 | c.970A>G (p.Ile324Val) n.2566A>G c.1045A>G (p.Ile349Val) c.997A>G (p.Ile333Val) c.922A>G (p.Ile308Val) c.865A>G (p.Ile289Val) | dbSNP gnomAD v4 |
| 3 | g.30672153A>T | CA351808277 | TGFBR2 | c.970A>T (p.Ile324Phe) n.2566A>T c.1045A>T (p.Ile349Phe) c.997A>T (p.Ile333Phe) c.922A>T (p.Ile308Phe) c.865A>T (p.Ile289Phe) | dbSNP |
| 3 | g.30672154T>A | CA351808278 | TGFBR2 | c.971T>A (p.Ile324Asn) n.2567T>A c.1046T>A (p.Ile349Asn) c.998T>A (p.Ile333Asn) c.923T>A (p.Ile308Asn) c.866T>A (p.Ile289Asn) | dbSNP |
| 3 | g.30672154T>C | CA351808279 | TGFBR2 | c.971T>C (p.Ile324Thr) n.2567T>C c.1046T>C (p.Ile349Thr) c.998T>C (p.Ile333Thr) c.923T>C (p.Ile308Thr) c.866T>C (p.Ile289Thr) | dbSNP |
| 3 | g.30672154T>G | CA351808280 | TGFBR2 | c.971T>G (p.Ile324Ser) n.2567T>G c.1046T>G (p.Ile349Ser) c.998T>G (p.Ile333Ser) c.923T>G (p.Ile308Ser) c.866T>G (p.Ile289Ser) | dbSNP |
| 3 | g.30672155C>A | CA433058960 | TGFBR2 | c.972C>A (p.Ile324=) n.2568C>A c.1047C>A (p.Ile349=) c.999C>A (p.Ile333=) c.924C>A (p.Ile308=) c.867C>A (p.Ile289=) | dbSNP |
| 3 | g.30672155C>G | CA351808281 | TGFBR2 | c.972C>G (p.Ile324Met) n.2568C>G c.1047C>G (p.Ile349Met) c.999C>G (p.Ile333Met) c.924C>G (p.Ile308Met) c.867C>G (p.Ile289Met) | dbSNP gnomAD v4 |
| 3 | g.30672155C>T | CA433058961 | TGFBR2 | c.972C>T (p.Ile324=) n.2568C>T c.1047C>T (p.Ile349=) c.999C>T (p.Ile333=) c.924C>T (p.Ile308=) c.867C>T (p.Ile289=) | dbSNP |
| 3 | g.30672156_30672158del | CA923726382 | TGFBR2 | c.973_975del (p.Thr325del) n.2569_2571del c.1048_1050del (p.Thr350del) c.1000_1002del (p.Thr334del) c.925_927del (p.Thr309del) c.868_870del (p.Thr290del) | |
| 3 | g.30672156A>C | CA351808282 | TGFBR2 | c.973A>C (p.Thr325Pro) n.2569A>C c.1048A>C (p.Thr350Pro) c.1000A>C (p.Thr334Pro) c.925A>C (p.Thr309Pro) c.868A>C (p.Thr290Pro) | dbSNP |
| 3 | g.30672156A>G | CA351808283 | TGFBR2 | c.973A>G (p.Thr325Ala) n.2569A>G c.1048A>G (p.Thr350Ala) c.1000A>G (p.Thr334Ala) c.925A>G (p.Thr309Ala) c.868A>G (p.Thr290Ala) | |
| 3 | g.30672156A>T | CA351808284 | TGFBR2 | c.973A>T (p.Thr325Ser) n.2569A>T c.1048A>T (p.Thr350Ser) c.1000A>T (p.Thr334Ser) c.925A>T (p.Thr309Ser) c.868A>T (p.Thr290Ser) | dbSNP |
| 3 | g.30672157C>A | CA351808285 | TGFBR2 | c.974C>A (p.Thr325Asn) n.2570C>A c.1049C>A (p.Thr350Asn) c.1001C>A (p.Thr334Asn) c.926C>A (p.Thr309Asn) c.869C>A (p.Thr290Asn) | dbSNP |
| 3 | g.30672157C>G | CA351808286 | TGFBR2 | c.974C>G (p.Thr325Ser) n.2570C>G c.1049C>G (p.Thr350Ser) c.1001C>G (p.Thr334Ser) c.926C>G (p.Thr309Ser) c.869C>G (p.Thr290Ser) | dbSNP |
| 3 | g.30672157C>T | CA351808287 | TGFBR2 | c.974C>T (p.Thr325Ile) n.2570C>T c.1049C>T (p.Thr350Ile) c.1001C>T (p.Thr334Ile) c.926C>T (p.Thr309Ile) c.869C>T (p.Thr290Ile) | dbSNP COSMIC COSMIC |
| 3 | g.30672158C>A | CA433058962 | TGFBR2 | c.975C>A (p.Thr325=) n.2571C>A c.1050C>A (p.Thr350=) c.1002C>A (p.Thr334=) c.927C>A (p.Thr309=) c.870C>A (p.Thr290=) | dbSNP gnomAD v4 |
| 3 | g.30672158C= | CA1354873156 | TGFBR2 | c.975C= (p.Thr325=) n.2571C= c.1050C= (p.Thr350=) c.1002C= (p.Thr334=) c.927C= (p.Thr309=) c.870C= (p.Thr290=) | |
| 3 | g.30672158C>G | CA433058963 | TGFBR2 | c.975C>G (p.Thr325=) n.2571C>G c.1050C>G (p.Thr350=) c.1002C>G (p.Thr334=) c.927C>G (p.Thr309=) c.870C>G (p.Thr290=) | dbSNP |
| 3 | g.30672158C>T | CA050706 | TGFBR2 | c.975C>T (p.Thr325=) n.2571C>T c.1050C>T (p.Thr350=) c.1002C>T (p.Thr334=) c.927C>T (p.Thr309=) c.870C>T (p.Thr290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672159G>A | CA050718 | TGFBR2 | c.976G>A (p.Ala326Thr) n.2572G>A c.1051G>A (p.Ala351Thr) c.1003G>A (p.Ala335Thr) c.928G>A (p.Ala310Thr) c.871G>A (p.Ala291Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672159G>C | CA351808289 | TGFBR2 | c.976G>C (p.Ala326Pro) n.2572G>C c.1051G>C (p.Ala351Pro) c.1003G>C (p.Ala335Pro) c.928G>C (p.Ala310Pro) c.871G>C (p.Ala291Pro) | dbSNP |
| 3 | g.30672159G= | CA1354873157 | TGFBR2 | c.976G= (p.Ala326=) n.2572G= c.1051G= (p.Ala351=) c.1003G= (p.Ala335=) c.928G= (p.Ala310=) c.871G= (p.Ala291=) | |
| 3 | g.30672159G>T | CA351808288 | TGFBR2 | c.976G>T (p.Ala326Ser) n.2572G>T c.1051G>T (p.Ala351Ser) c.1003G>T (p.Ala335Ser) c.928G>T (p.Ala310Ser) c.871G>T (p.Ala291Ser) | dbSNP |
| 3 | g.30672160C>A | CA351808290 | TGFBR2 | c.977C>A (p.Ala326Asp) n.2573C>A c.1052C>A (p.Ala351Asp) c.1004C>A (p.Ala335Asp) c.929C>A (p.Ala310Asp) c.872C>A (p.Ala291Asp) | dbSNP |
| 3 | g.30672160C>G | CA351808291 | TGFBR2 | c.977C>G (p.Ala326Gly) n.2573C>G c.1052C>G (p.Ala351Gly) c.1004C>G (p.Ala335Gly) c.929C>G (p.Ala310Gly) c.872C>G (p.Ala291Gly) | dbSNP |
| 3 | g.30672160C>T | CA351808292 | TGFBR2 | c.977C>T (p.Ala326Val) n.2573C>T c.1052C>T (p.Ala351Val) c.1004C>T (p.Ala335Val) c.929C>T (p.Ala310Val) c.872C>T (p.Ala291Val) | dbSNP gnomAD v4 |
| 3 | g.30672161C>A | CA433058964 | TGFBR2 | c.978C>A (p.Ala326=) n.2574C>A c.1053C>A (p.Ala351=) c.1005C>A (p.Ala335=) c.930C>A (p.Ala310=) c.873C>A (p.Ala291=) | |
| 3 | g.30672161C= | CA1354873158 | TGFBR2 | c.978C= (p.Ala326=) n.2574C= c.1053C= (p.Ala351=) c.1005C= (p.Ala335=) c.930C= (p.Ala310=) c.873C= (p.Ala291=) | |
| 3 | g.30672161C>G | CA433058965 | TGFBR2 | c.978C>G (p.Ala326=) n.2574C>G c.1053C>G (p.Ala351=) c.1005C>G (p.Ala335=) c.930C>G (p.Ala310=) c.873C>G (p.Ala291=) | |
| 3 | g.30672161C>T | CA433058966 | TGFBR2 | c.978C>T (p.Ala326=) n.2574C>T c.1053C>T (p.Ala351=) c.1005C>T (p.Ala335=) c.930C>T (p.Ala310=) c.873C>T (p.Ala291=) | ClinVar dbSNP gnomAD v4 |