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.30672014G>A | CA433058790 | TGFBR2 | c.831G>A (p.Lys277=) n.2427G>A c.906G>A (p.Lys302=) c.858G>A (p.Lys286=) c.783G>A (p.Lys261=) c.726G>A (p.Lys242=) | dbSNP |
| 3 | g.30672014G>C | CA351807964 | TGFBR2 | c.831G>C (p.Lys277Asn) n.2427G>C c.906G>C (p.Lys302Asn) c.858G>C (p.Lys286Asn) c.783G>C (p.Lys261Asn) c.726G>C (p.Lys242Asn) | ClinVar dbSNP |
| 3 | g.30672014G= | CA1354873090 | TGFBR2 | c.831G= (p.Lys277=) n.2427G= c.906G= (p.Lys302=) c.858G= (p.Lys286=) c.783G= (p.Lys261=) c.726G= (p.Lys242=) | |
| 3 | g.30672014G>T | CA10587565 | TGFBR2 | c.831G>T (p.Lys277Asn) n.2427G>T c.906G>T (p.Lys302Asn) c.858G>T (p.Lys286Asn) c.783G>T (p.Lys261Asn) c.726G>T (p.Lys242Asn) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672015A= | CA1354873091 | TGFBR2 | c.832A= (p.Ile278=) n.2428A= c.907A= (p.Ile303=) c.859A= (p.Ile287=) c.784A= (p.Ile262=) c.727A= (p.Ile243=) | |
| 3 | g.30672015A>C | CA351807965 | TGFBR2 | c.832A>C (p.Ile278Leu) n.2428A>C c.907A>C (p.Ile303Leu) c.859A>C (p.Ile287Leu) c.784A>C (p.Ile262Leu) c.727A>C (p.Ile243Leu) | |
| 3 | g.30672015A>G | CA351807966 | TGFBR2 | c.832A>G (p.Ile278Val) n.2428A>G c.907A>G (p.Ile303Val) c.859A>G (p.Ile287Val) c.784A>G (p.Ile262Val) c.727A>G (p.Ile243Val) | |
| 3 | g.30672015A>T | CA351807967 | TGFBR2 | c.832A>T (p.Ile278Phe) n.2428A>T c.907A>T (p.Ile303Phe) c.859A>T (p.Ile287Phe) c.784A>T (p.Ile262Phe) c.727A>T (p.Ile243Phe) | ClinVar dbSNP |
| 3 | g.30672016T>A | CA351807968 | TGFBR2 | c.833T>A (p.Ile278Asn) n.2429T>A c.908T>A (p.Ile303Asn) c.860T>A (p.Ile287Asn) c.785T>A (p.Ile262Asn) c.728T>A (p.Ile243Asn) | |
| 3 | g.30672016T>C | CA351807970 | TGFBR2 | c.833T>C (p.Ile278Thr) n.2429T>C c.908T>C (p.Ile303Thr) c.860T>C (p.Ile287Thr) c.785T>C (p.Ile262Thr) c.728T>C (p.Ile243Thr) | |
| 3 | g.30672016T>G | CA351807969 | TGFBR2 | c.833T>G (p.Ile278Ser) n.2429T>G c.908T>G (p.Ile303Ser) c.860T>G (p.Ile287Ser) c.785T>G (p.Ile262Ser) c.728T>G (p.Ile243Ser) | |
| 3 | g.30672017C>A | CA433058797 | TGFBR2 | c.834C>A (p.Ile278=) n.2430C>A c.909C>A (p.Ile303=) c.861C>A (p.Ile287=) c.786C>A (p.Ile262=) c.729C>A (p.Ile243=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672017C= | CA1354873092 | TGFBR2 | c.834C= (p.Ile278=) n.2430C= c.909C= (p.Ile303=) c.861C= (p.Ile287=) c.786C= (p.Ile262=) c.729C= (p.Ile243=) | |
| 3 | g.30672017C>G | CA351807971 | TGFBR2 | c.834C>G (p.Ile278Met) n.2430C>G c.909C>G (p.Ile303Met) c.861C>G (p.Ile287Met) c.786C>G (p.Ile262Met) c.729C>G (p.Ile243Met) | dbSNP gnomAD v4 |
| 3 | g.30672017C>T | CA049968 | TGFBR2 | c.834C>T (p.Ile278=) n.2430C>T c.909C>T (p.Ile303=) c.861C>T (p.Ile287=) c.786C>T (p.Ile262=) c.729C>T (p.Ile243=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672018T>A | CA351807972 | TGFBR2 | c.835T>A (p.Phe279Ile) n.2431T>A c.910T>A (p.Phe304Ile) c.862T>A (p.Phe288Ile) c.787T>A (p.Phe263Ile) c.730T>A (p.Phe244Ile) | |
| 3 | g.30672018T>C | CA049980 | TGFBR2 | c.835T>C (p.Phe279Leu) n.2431T>C c.910T>C (p.Phe304Leu) c.862T>C (p.Phe288Leu) c.787T>C (p.Phe263Leu) c.730T>C (p.Phe244Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672018T>G | CA351807973 | TGFBR2 | c.835T>G (p.Phe279Val) n.2431T>G c.910T>G (p.Phe304Val) c.862T>G (p.Phe288Val) c.787T>G (p.Phe263Val) c.730T>G (p.Phe244Val) | |
| 3 | g.30672018T= | CA1354873093 | TGFBR2 | c.835T= (p.Phe279=) n.2431T= c.910T= (p.Phe304=) c.862T= (p.Phe288=) c.787T= (p.Phe263=) c.730T= (p.Phe244=) | |
| 3 | g.30672019T>A | CA351807974 | TGFBR2 | c.836T>A (p.Phe279Tyr) n.2432T>A c.911T>A (p.Phe304Tyr) c.863T>A (p.Phe288Tyr) c.788T>A (p.Phe263Tyr) c.731T>A (p.Phe244Tyr) | |
| 3 | g.30672019T>C | CA351807975 | TGFBR2 | c.836T>C (p.Phe279Ser) n.2432T>C c.911T>C (p.Phe304Ser) c.863T>C (p.Phe288Ser) c.788T>C (p.Phe263Ser) c.731T>C (p.Phe244Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672019T>G | CA351807976 | TGFBR2 | c.836T>G (p.Phe279Cys) n.2432T>G c.911T>G (p.Phe304Cys) c.863T>G (p.Phe288Cys) c.788T>G (p.Phe263Cys) c.731T>G (p.Phe244Cys) | |
| 3 | g.30672019T= | CA1354873094 | TGFBR2 | c.836T= (p.Phe279=) n.2432T= c.911T= (p.Phe304=) c.863T= (p.Phe288=) c.788T= (p.Phe263=) c.731T= (p.Phe244=) | |
| 3 | g.30672020T>A | CA351807977 | TGFBR2 | c.837T>A (p.Phe279Leu) n.2433T>A c.912T>A (p.Phe304Leu) c.864T>A (p.Phe288Leu) c.789T>A (p.Phe263Leu) c.732T>A (p.Phe244Leu) | |
| 3 | g.30672020T>C | CA433058803 | TGFBR2 | c.837T>C (p.Phe279=) n.2433T>C c.912T>C (p.Phe304=) c.864T>C (p.Phe288=) c.789T>C (p.Phe263=) c.732T>C (p.Phe244=) | ClinVar dbSNP |
| 3 | g.30672020T>G | CA351807978 | TGFBR2 | c.837T>G (p.Phe279Leu) n.2433T>G c.912T>G (p.Phe304Leu) c.864T>G (p.Phe288Leu) c.789T>G (p.Phe263Leu) c.732T>G (p.Phe244Leu) | |
| 3 | g.30672021C>A | CA351807981 | TGFBR2 | c.838C>A (p.Pro280Thr) n.2434C>A c.913C>A (p.Pro305Thr) c.865C>A (p.Pro289Thr) c.790C>A (p.Pro264Thr) c.733C>A (p.Pro245Thr) | gnomAD v4 |
| 3 | g.30672021C>G | CA351807980 | TGFBR2 | c.838C>G (p.Pro280Ala) n.2434C>G c.913C>G (p.Pro305Ala) c.865C>G (p.Pro289Ala) c.790C>G (p.Pro264Ala) c.733C>G (p.Pro245Ala) | ClinVar dbSNP |
| 3 | g.30672021C>T | CA351807979 | TGFBR2 | c.838C>T (p.Pro280Ser) n.2434C>T c.913C>T (p.Pro305Ser) c.865C>T (p.Pro289Ser) c.790C>T (p.Pro264Ser) c.733C>T (p.Pro245Ser) | dbSNP |
| 3 | g.30672023del | CA2573130182 | TGFBR2 | c.840del (p.Tyr281MetfsTer19) n.2436del c.915del (p.Tyr306MetfsTer19) c.867del (p.Tyr290MetfsTer19) c.792del (p.Tyr265MetfsTer19) c.735del (p.Tyr246MetfsTer19) | |
| 3 | g.30672022C>A | CA351807982 | TGFBR2 | c.839C>A (p.Pro280His) n.2435C>A c.914C>A (p.Pro305His) c.866C>A (p.Pro289His) c.791C>A (p.Pro264His) c.734C>A (p.Pro245His) | |
| 3 | g.30672022C>G | CA351807984 | TGFBR2 | c.839C>G (p.Pro280Arg) n.2435C>G c.914C>G (p.Pro305Arg) c.866C>G (p.Pro289Arg) c.791C>G (p.Pro264Arg) c.734C>G (p.Pro245Arg) | dbSNP |
| 3 | g.30672022C>T | CA351807983 | TGFBR2 | c.839C>T (p.Pro280Leu) n.2435C>T c.914C>T (p.Pro305Leu) c.866C>T (p.Pro289Leu) c.791C>T (p.Pro264Leu) c.734C>T (p.Pro245Leu) | dbSNP |
| 3 | g.30672023C>A | CA433058807 | TGFBR2 | c.840C>A (p.Pro280=) n.2436C>A c.915C>A (p.Pro305=) c.867C>A (p.Pro289=) c.792C>A (p.Pro264=) c.735C>A (p.Pro245=) | |
| 3 | g.30672023C= | CA1354873096 | TGFBR2 | c.840C= (p.Pro280=) n.2436C= c.915C= (p.Pro305=) c.867C= (p.Pro289=) c.792C= (p.Pro264=) c.735C= (p.Pro245=) | |
| 3 | g.30672023C>G | CA433058808 | TGFBR2 | c.840C>G (p.Pro280=) n.2436C>G c.915C>G (p.Pro305=) c.867C>G (p.Pro289=) c.792C>G (p.Pro264=) c.735C>G (p.Pro245=) | ClinVar dbSNP |
| 3 | g.30672023C>T | CA433058809 | TGFBR2 | c.840C>T (p.Pro280=) n.2436C>T c.915C>T (p.Pro305=) c.867C>T (p.Pro289=) c.792C>T (p.Pro264=) c.735C>T (p.Pro245=) | dbSNP |
| 3 | g.30672023_30672032delinsCTATGAGGAG | CA1354873095 | TGFBR2 | c.840_849delinsCTATGAGGAG (p.Pro280=) n.2436_2445delinsCTATGAGGAG c.915_924delinsCTATGAGGAG (p.Pro305=) c.867_876delinsCTATGAGGAG (p.Pro289=) c.792_801delinsCTATGAGGAG (p.Pro264=) c.735_744delinsCTATGAGGAG (p.Pro245=) | |
| 3 | g.30672024T>A | CA351807985 | TGFBR2 | c.841T>A (p.Tyr281Asn) n.2437T>A c.916T>A (p.Tyr306Asn) c.868T>A (p.Tyr290Asn) c.793T>A (p.Tyr265Asn) c.736T>A (p.Tyr246Asn) | |
| 3 | g.30672024T>C | CA351807987 | TGFBR2 | c.841T>C (p.Tyr281His) n.2437T>C c.916T>C (p.Tyr306His) c.868T>C (p.Tyr290His) c.793T>C (p.Tyr265His) c.736T>C (p.Tyr246His) | |
| 3 | g.30672024T>G | CA351807986 | TGFBR2 | c.841T>G (p.Tyr281Asp) n.2437T>G c.916T>G (p.Tyr306Asp) c.868T>G (p.Tyr290Asp) c.793T>G (p.Tyr265Asp) c.736T>G (p.Tyr246Asp) | |
| 3 | g.30672028_30672036del | CA645294023 | TGFBR2 | c.845_853del (p.Glu282_Tyr284del) n.2441_2449del c.920_928del (p.Glu307_Tyr309del) c.872_880del (p.Glu291_Tyr293del) c.797_805del (p.Glu266_Tyr268del) c.740_748del (p.Glu247_Tyr249del) | ClinVar dbSNP |
| 3 | g.30672025A= | CA1354873097 | TGFBR2 | c.842A= (p.Tyr281=) n.2438A= c.917A= (p.Tyr306=) c.869A= (p.Tyr290=) c.794A= (p.Tyr265=) c.737A= (p.Tyr246=) | |
| 3 | g.30672025A>C | CA351807988 | TGFBR2 | c.842A>C (p.Tyr281Ser) n.2438A>C c.917A>C (p.Tyr306Ser) c.869A>C (p.Tyr290Ser) c.794A>C (p.Tyr265Ser) c.737A>C (p.Tyr246Ser) | |
| 3 | g.30672025A>G | CA351807989 | TGFBR2 | c.842A>G (p.Tyr281Cys) n.2438A>G c.917A>G (p.Tyr306Cys) c.869A>G (p.Tyr290Cys) c.794A>G (p.Tyr265Cys) c.737A>G (p.Tyr246Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672025A>T | CA351807990 | TGFBR2 | c.842A>T (p.Tyr281Phe) n.2438A>T c.917A>T (p.Tyr306Phe) c.869A>T (p.Tyr290Phe) c.794A>T (p.Tyr265Phe) c.737A>T (p.Tyr246Phe) | ClinVar dbSNP |
| 3 | g.30672026T>A | CA351807991 | TGFBR2 | c.843T>A (p.Tyr281Ter) n.2439T>A c.918T>A (p.Tyr306Ter) c.870T>A (p.Tyr290Ter) c.795T>A (p.Tyr265Ter) c.738T>A (p.Tyr246Ter) | |
| 3 | g.30672026T>C | CA433058811 | TGFBR2 | c.843T>C (p.Tyr281=) n.2439T>C c.918T>C (p.Tyr306=) c.870T>C (p.Tyr290=) c.795T>C (p.Tyr265=) c.738T>C (p.Tyr246=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672026T>G | CA351807992 | TGFBR2 | c.843T>G (p.Tyr281Ter) n.2439T>G c.918T>G (p.Tyr306Ter) c.870T>G (p.Tyr290Ter) c.795T>G (p.Tyr265Ter) c.738T>G (p.Tyr246Ter) | |
| 3 | g.30672026T= | CA1354873098 | TGFBR2 | c.843T= (p.Tyr281=) n.2439T= c.918T= (p.Tyr306=) c.870T= (p.Tyr290=) c.795T= (p.Tyr265=) c.738T= (p.Tyr246=) |