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.30672098C>A | CA433058894 | TGFBR2 | c.915C>A (p.Leu305=) n.2511C>A c.990C>A (p.Leu330=) c.942C>A (p.Leu314=) c.867C>A (p.Leu289=) c.810C>A (p.Leu270=) | dbSNP |
| 3 | g.30672098C= | CA1354873127 | TGFBR2 | c.915C= (p.Leu305=) n.2511C= c.990C= (p.Leu330=) c.942C= (p.Leu314=) c.867C= (p.Leu289=) c.810C= (p.Leu270=) | |
| 3 | g.30672098C>G | CA050138 | TGFBR2 | c.915C>G (p.Leu305=) n.2511C>G c.990C>G (p.Leu330=) c.942C>G (p.Leu314=) c.867C>G (p.Leu289=) c.810C>G (p.Leu270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672098C>T | CA050149 | TGFBR2 | c.915C>T (p.Leu305=) n.2511C>T c.990C>T (p.Leu330=) c.942C>T (p.Leu314=) c.867C>T (p.Leu289=) c.810C>T (p.Leu270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672098_30672099delinsTCATG | CA2586965651 | TGFBR2 | c.915_916delinsTCATG (p.Gln306delinsHisGlu) n.2511_2512delinsTCATG c.990_991delinsTCATG (p.Gln331delinsHisGlu) c.942_943delinsTCATG (p.Gln315delinsHisGlu) c.867_868delinsTCATG (p.Gln290delinsHisGlu) c.810_811delinsTCATG (p.Gln271delinsHisGlu) | |
| 3 | g.30672099C>A | CA351808162 | TGFBR2 | c.916C>A (p.Gln306Lys) n.2512C>A c.991C>A (p.Gln331Lys) c.943C>A (p.Gln315Lys) c.868C>A (p.Gln290Lys) c.811C>A (p.Gln271Lys) | dbSNP |
| 3 | g.30672099C>G | CA351808161 | TGFBR2 | c.916C>G (p.Gln306Glu) n.2512C>G c.991C>G (p.Gln331Glu) c.943C>G (p.Gln315Glu) c.868C>G (p.Gln290Glu) c.811C>G (p.Gln271Glu) | dbSNP |
| 3 | g.30672099C>T | CA351808160 | TGFBR2 | c.916C>T (p.Gln306Ter) n.2512C>T c.991C>T (p.Gln331Ter) c.943C>T (p.Gln315Ter) c.868C>T (p.Gln290Ter) c.811C>T (p.Gln271Ter) | dbSNP gnomAD v4 COSMIC |
| 3 | g.30672100A>C | CA351808163 | TGFBR2 | c.917A>C (p.Gln306Pro) n.2513A>C c.992A>C (p.Gln331Pro) c.944A>C (p.Gln315Pro) c.869A>C (p.Gln290Pro) c.812A>C (p.Gln271Pro) | |
| 3 | g.30672100A>G | CA351808165 | TGFBR2 | c.917A>G (p.Gln306Arg) n.2513A>G c.992A>G (p.Gln331Arg) c.944A>G (p.Gln315Arg) c.869A>G (p.Gln290Arg) c.812A>G (p.Gln271Arg) | |
| 3 | g.30672100A>T | CA351808164 | TGFBR2 | c.917A>T (p.Gln306Leu) n.2513A>T c.992A>T (p.Gln331Leu) c.944A>T (p.Gln315Leu) c.869A>T (p.Gln290Leu) c.812A>T (p.Gln271Leu) | dbSNP |
| 3 | g.30672101G>A | CA433058895 | TGFBR2 | c.918G>A (p.Gln306=) n.2514G>A c.993G>A (p.Gln331=) c.945G>A (p.Gln315=) c.870G>A (p.Gln290=) c.813G>A (p.Gln271=) | dbSNP |
| 3 | g.30672101G>C | CA351808166 | TGFBR2 | c.918G>C (p.Gln306His) n.2514G>C c.993G>C (p.Gln331His) c.945G>C (p.Gln315His) c.870G>C (p.Gln290His) c.813G>C (p.Gln271His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672101G= | CA1354873128 | TGFBR2 | c.918G= (p.Gln306=) n.2514G= c.993G= (p.Gln331=) c.945G= (p.Gln315=) c.870G= (p.Gln290=) c.813G= (p.Gln271=) | |
| 3 | g.30672101G>T | CA351808167 | TGFBR2 | c.918G>T (p.Gln306His) n.2514G>T c.993G>T (p.Gln331His) c.945G>T (p.Gln315His) c.870G>T (p.Gln290His) c.813G>T (p.Gln271His) | |
| 3 | g.30672102T>A | CA351808168 | TGFBR2 | c.919T>A (p.Phe307Ile) n.2515T>A c.994T>A (p.Phe332Ile) c.946T>A (p.Phe316Ile) c.871T>A (p.Phe291Ile) c.814T>A (p.Phe272Ile) | dbSNP |
| 3 | g.30672102T>C | CA351808169 | TGFBR2 | c.919T>C (p.Phe307Leu) n.2515T>C c.994T>C (p.Phe332Leu) c.946T>C (p.Phe316Leu) c.871T>C (p.Phe291Leu) c.814T>C (p.Phe272Leu) | dbSNP |
| 3 | g.30672102T>G | CA351808170 | TGFBR2 | c.919T>G (p.Phe307Val) n.2515T>G c.994T>G (p.Phe332Val) c.946T>G (p.Phe316Val) c.871T>G (p.Phe291Val) c.814T>G (p.Phe272Val) | dbSNP |
| 3 | g.30672103T>A | CA351808171 | TGFBR2 | c.920T>A (p.Phe307Tyr) n.2516T>A c.995T>A (p.Phe332Tyr) c.947T>A (p.Phe316Tyr) c.872T>A (p.Phe291Tyr) c.815T>A (p.Phe272Tyr) | dbSNP |
| 3 | g.30672103T>C | CA351808172 | TGFBR2 | c.920T>C (p.Phe307Ser) n.2516T>C c.995T>C (p.Phe332Ser) c.947T>C (p.Phe316Ser) c.872T>C (p.Phe291Ser) c.815T>C (p.Phe272Ser) | dbSNP |
| 3 | g.30672103T>G | CA351808173 | TGFBR2 | c.920T>G (p.Phe307Cys) n.2516T>G c.995T>G (p.Phe332Cys) c.947T>G (p.Phe316Cys) c.872T>G (p.Phe291Cys) c.815T>G (p.Phe272Cys) | |
| 3 | g.30672104C>A | CA351808174 | TGFBR2 | c.921C>A (p.Phe307Leu) n.2517C>A c.996C>A (p.Phe332Leu) c.948C>A (p.Phe316Leu) c.873C>A (p.Phe291Leu) c.816C>A (p.Phe272Leu) | gnomAD v4 |
| 3 | g.30672104C= | CA1354873129 | TGFBR2 | c.921C= (p.Phe307=) n.2517C= c.996C= (p.Phe332=) c.948C= (p.Phe316=) c.873C= (p.Phe291=) c.816C= (p.Phe272=) | |
| 3 | g.30672104C>G | CA351808175 | TGFBR2 | c.921C>G (p.Phe307Leu) n.2517C>G c.996C>G (p.Phe332Leu) c.948C>G (p.Phe316Leu) c.873C>G (p.Phe291Leu) c.816C>G (p.Phe272Leu) | dbSNP |
| 3 | g.30672104C>T | CA71528298 | TGFBR2 | c.921C>T (p.Phe307=) n.2517C>T c.996C>T (p.Phe332=) c.948C>T (p.Phe316=) c.873C>T (p.Phe291=) c.816C>T (p.Phe272=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672105C>A | CA351808176 | TGFBR2 | c.922C>A (p.Leu308Met) n.2518C>A c.997C>A (p.Leu333Met) c.949C>A (p.Leu317Met) c.874C>A (p.Leu292Met) c.817C>A (p.Leu273Met) | |
| 3 | g.30672105C>G | CA351808177 | TGFBR2 | c.922C>G (p.Leu308Val) n.2518C>G c.997C>G (p.Leu333Val) c.949C>G (p.Leu317Val) c.874C>G (p.Leu292Val) c.817C>G (p.Leu273Val) | dbSNP |
| 3 | g.30672105C>T | CA433058897 | TGFBR2 | c.922C>T (p.Leu308=) n.2518C>T c.997C>T (p.Leu333=) c.949C>T (p.Leu317=) c.874C>T (p.Leu292=) c.817C>T (p.Leu273=) | dbSNP |
| 3 | g.30672106T>A | CA351808179 | TGFBR2 | c.923T>A (p.Leu308Gln) n.2519T>A c.998T>A (p.Leu333Gln) c.950T>A (p.Leu317Gln) c.875T>A (p.Leu292Gln) c.818T>A (p.Leu273Gln) | |
| 3 | g.30672106T>C | CA020791 | TGFBR2 | c.923T>C (p.Leu308Pro) n.2519T>C c.998T>C (p.Leu333Pro) c.950T>C (p.Leu317Pro) c.875T>C (p.Leu292Pro) c.818T>C (p.Leu273Pro) | ClinVar dbSNP |
| 3 | g.30672106T>G | CA351808178 | TGFBR2 | c.923T>G (p.Leu308Arg) n.2519T>G c.998T>G (p.Leu333Arg) c.950T>G (p.Leu317Arg) c.875T>G (p.Leu292Arg) c.818T>G (p.Leu273Arg) | |
| 3 | g.30672106T= | CA1354873130 | TGFBR2 | c.923T= (p.Leu308=) n.2519T= c.998T= (p.Leu333=) c.950T= (p.Leu317=) c.875T= (p.Leu292=) c.818T= (p.Leu273=) | |
| 3 | g.30672107G>A | CA433058898 | TGFBR2 | c.924G>A (p.Leu308=) n.2520G>A c.999G>A (p.Leu333=) c.951G>A (p.Leu317=) c.876G>A (p.Leu292=) c.819G>A (p.Leu273=) | ClinVar dbSNP |
| 3 | g.30672107G>C | CA433058900 | TGFBR2 | c.924G>C (p.Leu308=) n.2520G>C c.999G>C (p.Leu333=) c.951G>C (p.Leu317=) c.876G>C (p.Leu292=) c.819G>C (p.Leu273=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672107G= | CA1354873131 | TGFBR2 | c.924G= (p.Leu308=) n.2520G= c.999G= (p.Leu333=) c.951G= (p.Leu317=) c.876G= (p.Leu292=) c.819G= (p.Leu273=) | |
| 3 | g.30672107G>T | CA433058901 | TGFBR2 | c.924G>T (p.Leu308=) n.2520G>T c.999G>T (p.Leu333=) c.951G>T (p.Leu317=) c.876G>T (p.Leu292=) c.819G>T (p.Leu273=) | dbSNP gnomAD v4 |
| 3 | g.30672108A>C | CA351808180 | TGFBR2 | c.925A>C (p.Thr309Pro) n.2521A>C c.1000A>C (p.Thr334Pro) c.952A>C (p.Thr318Pro) c.877A>C (p.Thr293Pro) c.820A>C (p.Thr274Pro) | dbSNP |
| 3 | g.30672108A>G | CA351808181 | TGFBR2 | c.925A>G (p.Thr309Ala) n.2521A>G c.1000A>G (p.Thr334Ala) c.952A>G (p.Thr318Ala) c.877A>G (p.Thr293Ala) c.820A>G (p.Thr274Ala) | dbSNP |
| 3 | g.30672108A>T | CA351808182 | TGFBR2 | c.925A>T (p.Thr309Ser) n.2521A>T c.1000A>T (p.Thr334Ser) c.952A>T (p.Thr318Ser) c.877A>T (p.Thr293Ser) c.820A>T (p.Thr274Ser) | dbSNP |
| 3 | g.30672109C>A | CA351808183 | TGFBR2 | c.926C>A (p.Thr309Lys) n.2522C>A c.1001C>A (p.Thr334Lys) c.953C>A (p.Thr318Lys) c.878C>A (p.Thr293Lys) c.821C>A (p.Thr274Lys) | |
| 3 | g.30672109C= | CA1354873132 | TGFBR2 | c.926C= (p.Thr309=) n.2522C= c.1001C= (p.Thr334=) c.953C= (p.Thr318=) c.878C= (p.Thr293=) c.821C= (p.Thr274=) | |
| 3 | g.30672109C>G | CA351808184 | TGFBR2 | c.926C>G (p.Thr309Arg) n.2522C>G c.1001C>G (p.Thr334Arg) c.953C>G (p.Thr318Arg) c.878C>G (p.Thr293Arg) c.821C>G (p.Thr274Arg) | dbSNP |
| 3 | g.30672109C>T | CA050182 | TGFBR2 | c.926C>T (p.Thr309Met) n.2522C>T c.1001C>T (p.Thr334Met) c.953C>T (p.Thr318Met) c.878C>T (p.Thr293Met) c.821C>T (p.Thr274Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672110G>A | CA050194 | TGFBR2 | c.927G>A (p.Thr309=) n.2523G>A c.1002G>A (p.Thr334=) c.954G>A (p.Thr318=) c.879G>A (p.Thr293=) c.822G>A (p.Thr274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672110G>C | CA050207 | TGFBR2 | c.927G>C (p.Thr309=) n.2523G>C c.1002G>C (p.Thr334=) c.954G>C (p.Thr318=) c.879G>C (p.Thr293=) c.822G>C (p.Thr274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672110G= | CA1354873133 | TGFBR2 | c.927G= (p.Thr309=) n.2523G= c.1002G= (p.Thr334=) c.954G= (p.Thr318=) c.879G= (p.Thr293=) c.822G= (p.Thr274=) | |
| 3 | g.30672110G>T | CA433058902 | TGFBR2 | c.927G>T (p.Thr309=) n.2523G>T c.1002G>T (p.Thr334=) c.954G>T (p.Thr318=) c.879G>T (p.Thr293=) c.822G>T (p.Thr274=) | dbSNP COSMIC COSMIC |
| 3 | g.30672111G>A | CA351808185 | TGFBR2 | c.928G>A (p.Ala310Thr) n.2524G>A c.1003G>A (p.Ala335Thr) c.955G>A (p.Ala319Thr) c.880G>A (p.Ala294Thr) c.823G>A (p.Ala275Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672111G>C | CA351808186 | TGFBR2 | c.928G>C (p.Ala310Pro) n.2524G>C c.1003G>C (p.Ala335Pro) c.955G>C (p.Ala319Pro) c.880G>C (p.Ala294Pro) c.823G>C (p.Ala275Pro) | dbSNP |
| 3 | g.30672111G= | CA1354873134 | TGFBR2 | c.928G= (p.Ala310=) n.2524G= c.1003G= (p.Ala335=) c.955G= (p.Ala319=) c.880G= (p.Ala294=) c.823G= (p.Ala275=) |