WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672115_30672135delinsAGGAGCGGAAGACGGAGTTGG | CA1354873136 | TGFBR2 | c.932_952delinsAGGAGCGGAAGACGGAGTTGG (p.Glu311=) n.2528_2548delinsAGGAGCGGAAGACGGAGTTGG c.1007_1027delinsAGGAGCGGAAGACGGAGTTGG (p.Glu336=) c.959_979delinsAGGAGCGGAAGACGGAGTTGG (p.Glu320=) c.884_904delinsAGGAGCGGAAGACGGAGTTGG (p.Glu295=) c.827_847delinsAGGAGCGGAAGACGGAGTTGG (p.Glu276=) | |
| 3 | g.30672119_30672138del | CA541976297 | TGFBR2 | c.936_955del (p.Arg313ThrfsTer?) n.2532_2551del c.1011_1030del (p.Arg338ThrfsTer?) c.963_982del (p.Arg322ThrfsTer?) c.888_907del (p.Arg297ThrfsTer?) c.831_850del (p.Arg278ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672127C>A | CA351808219 | TGFBR2 | c.944C>A (p.Thr315Lys) n.2540C>A c.1019C>A (p.Thr340Lys) c.971C>A (p.Thr324Lys) c.896C>A (p.Thr299Lys) c.839C>A (p.Thr280Lys) | dbSNP |
| 3 | g.30672127C= | CA1354873142 | TGFBR2 | c.944C= (p.Thr315=) n.2540C= c.1019C= (p.Thr340=) c.971C= (p.Thr324=) c.896C= (p.Thr299=) c.839C= (p.Thr280=) | |
| 3 | g.30672127C>G | CA351808220 | TGFBR2 | c.944C>G (p.Thr315Arg) n.2540C>G c.1019C>G (p.Thr340Arg) c.971C>G (p.Thr324Arg) c.896C>G (p.Thr299Arg) c.839C>G (p.Thr280Arg) | dbSNP |
| 3 | g.30672127C>T | CA020555 | TGFBR2 | c.944C>T (p.Thr315Met) n.2540C>T c.1019C>T (p.Thr340Met) c.971C>T (p.Thr324Met) c.896C>T (p.Thr299Met) c.839C>T (p.Thr280Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672128G>A | CA71528404 | TGFBR2 | c.945G>A (p.Thr315=) n.2541G>A c.1020G>A (p.Thr340=) c.972G>A (p.Thr324=) c.897G>A (p.Thr299=) c.840G>A (p.Thr280=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672128G>C | CA433058919 | TGFBR2 | c.945G>C (p.Thr315=) n.2541G>C c.1020G>C (p.Thr340=) c.972G>C (p.Thr324=) c.897G>C (p.Thr299=) c.840G>C (p.Thr280=) | dbSNP gnomAD v4 |
| 3 | g.30672128G= | CA1354873143 | TGFBR2 | c.945G= (p.Thr315=) n.2541G= c.1020G= (p.Thr340=) c.972G= (p.Thr324=) c.897G= (p.Thr299=) c.840G= (p.Thr280=) | |
| 3 | g.30672128G>T | CA433058920 | TGFBR2 | c.945G>T (p.Thr315=) n.2541G>T c.1020G>T (p.Thr340=) c.972G>T (p.Thr324=) c.897G>T (p.Thr299=) c.840G>T (p.Thr280=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672129G>A | CA351808221 | TGFBR2 | c.946G>A (p.Glu316Lys) n.2542G>A c.1021G>A (p.Glu341Lys) c.973G>A (p.Glu325Lys) c.898G>A (p.Glu300Lys) c.841G>A (p.Glu281Lys) | dbSNP |
| 3 | g.30672129G>C | CA351808222 | TGFBR2 | c.946G>C (p.Glu316Gln) n.2542G>C c.1021G>C (p.Glu341Gln) c.973G>C (p.Glu325Gln) c.898G>C (p.Glu300Gln) c.841G>C (p.Glu281Gln) | dbSNP |
| 3 | g.30672129G>T | CA351808223 | TGFBR2 | c.946G>T (p.Glu316Ter) n.2542G>T c.1021G>T (p.Glu341Ter) c.973G>T (p.Glu325Ter) c.898G>T (p.Glu300Ter) c.841G>T (p.Glu281Ter) | dbSNP |
| 3 | g.30672130A= | CA2580587341 | TGFBR2 | c.947A= (p.Glu316=) n.2543A= c.1022A= (p.Glu341=) c.974A= (p.Glu325=) c.899A= (p.Glu300=) c.842A= (p.Glu281=) | |
| 3 | g.30672130A>C | CA351808224 | TGFBR2 | c.947A>C (p.Glu316Ala) n.2543A>C c.1022A>C (p.Glu341Ala) c.974A>C (p.Glu325Ala) c.899A>C (p.Glu300Ala) c.842A>C (p.Glu281Ala) | |
| 3 | g.30672130A>G | CA351808225 | TGFBR2 | c.947A>G (p.Glu316Gly) n.2543A>G c.1022A>G (p.Glu341Gly) c.974A>G (p.Glu325Gly) c.899A>G (p.Glu300Gly) c.842A>G (p.Glu281Gly) | dbSNP gnomAD v4 |
| 3 | g.30672130A>T | CA71528409 | TGFBR2 | c.947A>T (p.Glu316Val) n.2543A>T c.1022A>T (p.Glu341Val) c.974A>T (p.Glu325Val) c.899A>T (p.Glu300Val) c.842A>T (p.Glu281Val) | dbSNP |
| 3 | g.30672131G>A | CA433058922 | TGFBR2 | c.948G>A (p.Glu316=) n.2544G>A c.1023G>A (p.Glu341=) c.975G>A (p.Glu325=) c.900G>A (p.Glu300=) c.843G>A (p.Glu281=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672131G>C | CA351808226 | TGFBR2 | c.948G>C (p.Glu316Asp) n.2544G>C c.1023G>C (p.Glu341Asp) c.975G>C (p.Glu325Asp) c.900G>C (p.Glu300Asp) c.843G>C (p.Glu281Asp) | dbSNP |
| 3 | g.30672131G= | CA1354873144 | TGFBR2 | c.948G= (p.Glu316=) n.2544G= c.1023G= (p.Glu341=) c.975G= (p.Glu325=) c.900G= (p.Glu300=) c.843G= (p.Glu281=) | |
| 3 | g.30672131G>T | CA351808227 | TGFBR2 | c.948G>T (p.Glu316Asp) n.2544G>T c.1023G>T (p.Glu341Asp) c.975G>T (p.Glu325Asp) c.900G>T (p.Glu300Asp) c.843G>T (p.Glu281Asp) | dbSNP |
| 3 | g.30672132T>A | CA351808229 | TGFBR2 | c.949T>A (p.Leu317Met) n.2545T>A c.1024T>A (p.Leu342Met) c.976T>A (p.Leu326Met) c.901T>A (p.Leu301Met) c.844T>A (p.Leu282Met) | dbSNP |
| 3 | g.30672132T>C | CA433058947 | TGFBR2 | c.949T>C (p.Leu317=) n.2545T>C c.1024T>C (p.Leu342=) c.976T>C (p.Leu326=) c.901T>C (p.Leu301=) c.844T>C (p.Leu282=) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672132T>G | CA351808228 | TGFBR2 | c.949T>G (p.Leu317Val) n.2545T>G c.1024T>G (p.Leu342Val) c.976T>G (p.Leu326Val) c.901T>G (p.Leu301Val) c.844T>G (p.Leu282Val) | dbSNP |
| 3 | g.30672132T= | CA1354873145 | TGFBR2 | c.949T= (p.Leu317=) n.2545T= c.1024T= (p.Leu342=) c.976T= (p.Leu326=) c.901T= (p.Leu301=) c.844T= (p.Leu282=) | |
| 3 | g.30672133T>A | CA351808230 | TGFBR2 | c.950T>A (p.Leu317Ter) n.2546T>A c.1025T>A (p.Leu342Ter) c.977T>A (p.Leu326Ter) c.902T>A (p.Leu301Ter) c.845T>A (p.Leu282Ter) | |
| 3 | g.30672133T>C | CA351808231 | TGFBR2 | c.950T>C (p.Leu317Ser) n.2546T>C c.1025T>C (p.Leu342Ser) c.977T>C (p.Leu326Ser) c.902T>C (p.Leu301Ser) c.845T>C (p.Leu282Ser) | |
| 3 | g.30672133T>G | CA351808232 | TGFBR2 | c.950T>G (p.Leu317Trp) n.2546T>G c.1025T>G (p.Leu342Trp) c.977T>G (p.Leu326Trp) c.902T>G (p.Leu301Trp) c.845T>G (p.Leu282Trp) | |
| 3 | g.30672134G>A | CA433058948 | TGFBR2 | c.951G>A (p.Leu317=) n.2547G>A c.1026G>A (p.Leu342=) c.978G>A (p.Leu326=) c.903G>A (p.Leu301=) c.846G>A (p.Leu282=) | ClinVar dbSNP |
| 3 | g.30672134G>C | CA351808233 | TGFBR2 | c.951G>C (p.Leu317Phe) n.2547G>C c.1026G>C (p.Leu342Phe) c.978G>C (p.Leu326Phe) c.903G>C (p.Leu301Phe) c.846G>C (p.Leu282Phe) | dbSNP |
| 3 | g.30672134G>T | CA351808234 | TGFBR2 | c.951G>T (p.Leu317Phe) n.2547G>T c.1026G>T (p.Leu342Phe) c.978G>T (p.Leu326Phe) c.903G>T (p.Leu301Phe) c.846G>T (p.Leu282Phe) | dbSNP gnomAD v4 |
| 3 | g.30672137del | CA645535106 | TGFBR2 | c.954del (p.Lys319AsnfsTer5) n.2550del c.1029del (p.Lys344AsnfsTer5) c.981del (p.Lys328AsnfsTer5) c.906del (p.Lys303AsnfsTer5) c.849del (p.Lys284AsnfsTer5) | COSMIC COSMIC |
| 3 | g.30672135G>A | CA351808237 | TGFBR2 | c.952G>A (p.Gly318Arg) n.2548G>A c.1027G>A (p.Gly343Arg) c.979G>A (p.Gly327Arg) c.904G>A (p.Gly302Arg) c.847G>A (p.Gly283Arg) | dbSNP |
| 3 | g.30672135G>C | CA351808236 | TGFBR2 | c.952G>C (p.Gly318Arg) n.2548G>C c.1027G>C (p.Gly343Arg) c.979G>C (p.Gly327Arg) c.904G>C (p.Gly302Arg) c.847G>C (p.Gly283Arg) | dbSNP |
| 3 | g.30672135G>T | CA351808235 | TGFBR2 | c.952G>T (p.Gly318Trp) n.2548G>T c.1027G>T (p.Gly343Trp) c.979G>T (p.Gly327Trp) c.904G>T (p.Gly302Trp) c.847G>T (p.Gly283Trp) | dbSNP |
| 3 | g.30672136G>A | CA351808238 | TGFBR2 | c.953G>A (p.Gly318Glu) n.2549G>A c.1028G>A (p.Gly343Glu) c.980G>A (p.Gly327Glu) c.905G>A (p.Gly302Glu) c.848G>A (p.Gly283Glu) | dbSNP |
| 3 | g.30672136G>C | CA050632 | TGFBR2 | c.953G>C (p.Gly318Ala) n.2549G>C c.1028G>C (p.Gly343Ala) c.980G>C (p.Gly327Ala) c.905G>C (p.Gly302Ala) c.848G>C (p.Gly283Ala) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.30672136G= | CA1354873146 | TGFBR2 | c.953G= (p.Gly318=) n.2549G= c.1028G= (p.Gly343=) c.980G= (p.Gly327=) c.905G= (p.Gly302=) c.848G= (p.Gly283=) | |
| 3 | g.30672136G>T | CA351808239 | TGFBR2 | c.953G>T (p.Gly318Val) n.2549G>T c.1028G>T (p.Gly343Val) c.980G>T (p.Gly327Val) c.905G>T (p.Gly302Val) c.848G>T (p.Gly283Val) | dbSNP |
| 3 | g.30672137G>A | CA433058949 | TGFBR2 | c.954G>A (p.Gly318=) n.2550G>A c.1029G>A (p.Gly343=) c.981G>A (p.Gly327=) c.906G>A (p.Gly302=) c.849G>A (p.Gly283=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672137G>C | CA433058950 | TGFBR2 | c.954G>C (p.Gly318=) n.2550G>C c.1029G>C (p.Gly343=) c.981G>C (p.Gly327=) c.906G>C (p.Gly302=) c.849G>C (p.Gly283=) | dbSNP |
| 3 | g.30672137G>T | CA433058951 | TGFBR2 | c.954G>T (p.Gly318=) n.2550G>T c.1029G>T (p.Gly343=) c.981G>T (p.Gly327=) c.906G>T (p.Gly302=) c.849G>T (p.Gly283=) | |
| 3 | g.30672138A>C | CA351808240 | TGFBR2 | c.955A>C (p.Lys319Gln) n.2551A>C c.1030A>C (p.Lys344Gln) c.982A>C (p.Lys328Gln) c.907A>C (p.Lys303Gln) c.850A>C (p.Lys284Gln) | |
| 3 | g.30672138A>G | CA351808241 | TGFBR2 | c.955A>G (p.Lys319Glu) n.2551A>G c.1030A>G (p.Lys344Glu) c.982A>G (p.Lys328Glu) c.907A>G (p.Lys303Glu) c.850A>G (p.Lys284Glu) | dbSNP |
| 3 | g.30672138A>T | CA351808242 | TGFBR2 | c.955A>T (p.Lys319Ter) n.2551A>T c.1030A>T (p.Lys344Ter) c.982A>T (p.Lys328Ter) c.907A>T (p.Lys303Ter) c.850A>T (p.Lys284Ter) | |
| 3 | g.30672139A= | CA1354873147 | TGFBR2 | c.956A= (p.Lys319=) n.2552A= c.1031A= (p.Lys344=) c.983A= (p.Lys328=) c.908A= (p.Lys303=) c.851A= (p.Lys284=) | |
| 3 | g.30672139A>C | CA351808245 | TGFBR2 | c.956A>C (p.Lys319Thr) n.2552A>C c.1031A>C (p.Lys344Thr) c.983A>C (p.Lys328Thr) c.908A>C (p.Lys303Thr) c.851A>C (p.Lys284Thr) | gnomAD v4 |
| 3 | g.30672139A>G | CA351808243 | TGFBR2 | c.956A>G (p.Lys319Arg) n.2552A>G c.1031A>G (p.Lys344Arg) c.983A>G (p.Lys328Arg) c.908A>G (p.Lys303Arg) c.851A>G (p.Lys284Arg) | ClinVar dbSNP |
| 3 | g.30672139A>T | CA351808244 | TGFBR2 | c.956A>T (p.Lys319Ile) n.2552A>T c.1031A>T (p.Lys344Ile) c.983A>T (p.Lys328Ile) c.908A>T (p.Lys303Ile) c.851A>T (p.Lys284Ile) | |
| 3 | g.30672140A= | CA1354873148 | TGFBR2 | c.957A= (p.Lys319=) n.2553A= c.1032A= (p.Lys344=) c.984A= (p.Lys328=) c.909A= (p.Lys303=) c.852A= (p.Lys284=) |