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.30672008A>C | CA433058784 | TGFBR2 | c.825A>C (p.Ala275=) n.2421A>C c.900A>C (p.Ala300=) c.852A>C (p.Ala284=) c.777A>C (p.Ala259=) c.720A>C (p.Ala240=) | |
| 3 | g.30672008A>G | CA433058785 | TGFBR2 | c.825A>G (p.Ala275=) n.2421A>G c.900A>G (p.Ala300=) c.852A>G (p.Ala284=) c.777A>G (p.Ala259=) c.720A>G (p.Ala240=) | ClinVar dbSNP |
| 3 | g.30672008A>T | CA433058786 | TGFBR2 | c.825A>T (p.Ala275=) n.2421A>T c.900A>T (p.Ala300=) c.852A>T (p.Ala284=) c.777A>T (p.Ala259=) c.720A>T (p.Ala240=) | |
| 3 | g.30672009G>A | CA351807955 | TGFBR2 | c.826G>A (p.Val276Ile) n.2422G>A c.901G>A (p.Val301Ile) c.853G>A (p.Val285Ile) c.778G>A (p.Val260Ile) c.721G>A (p.Val241Ile) | dbSNP |
| 3 | g.30672009G>C | CA351807954 | TGFBR2 | c.826G>C (p.Val276Leu) n.2422G>C c.901G>C (p.Val301Leu) c.853G>C (p.Val285Leu) c.778G>C (p.Val260Leu) c.721G>C (p.Val241Leu) | dbSNP |
| 3 | g.30672009G= | CA1354873088 | TGFBR2 | c.826G= (p.Val276=) n.2422G= c.901G= (p.Val301=) c.853G= (p.Val285=) c.778G= (p.Val260=) c.721G= (p.Val241=) | |
| 3 | g.30672009G>T | CA351807953 | TGFBR2 | c.826G>T (p.Val276Phe) n.2422G>T c.901G>T (p.Val301Phe) c.853G>T (p.Val285Phe) c.778G>T (p.Val260Phe) c.721G>T (p.Val241Phe) | ClinVar dbSNP |
| 3 | g.30672010T>A | CA351807956 | TGFBR2 | c.827T>A (p.Val276Asp) n.2423T>A c.902T>A (p.Val301Asp) c.854T>A (p.Val285Asp) c.779T>A (p.Val260Asp) c.722T>A (p.Val241Asp) | dbSNP |
| 3 | g.30672010T>C | CA351807957 | TGFBR2 | c.827T>C (p.Val276Ala) n.2423T>C c.902T>C (p.Val301Ala) c.854T>C (p.Val285Ala) c.779T>C (p.Val260Ala) c.722T>C (p.Val241Ala) | |
| 3 | g.30672010T>G | CA71528136 | TGFBR2 | c.827T>G (p.Val276Gly) n.2423T>G c.902T>G (p.Val301Gly) c.854T>G (p.Val285Gly) c.779T>G (p.Val260Gly) c.722T>G (p.Val241Gly) | dbSNP gnomAD v2 |
| 3 | g.30672010T= | CA1354873089 | TGFBR2 | c.827T= (p.Val276=) n.2423T= c.902T= (p.Val301=) c.854T= (p.Val285=) c.779T= (p.Val260=) c.722T= (p.Val241=) | |
| 3 | g.30672011C>A | CA433058787 | TGFBR2 | c.828C>A (p.Val276=) n.2424C>A c.903C>A (p.Val301=) c.855C>A (p.Val285=) c.780C>A (p.Val260=) c.723C>A (p.Val241=) | |
| 3 | g.30672011C>G | CA433058789 | TGFBR2 | c.828C>G (p.Val276=) n.2424C>G c.903C>G (p.Val301=) c.855C>G (p.Val285=) c.780C>G (p.Val260=) c.723C>G (p.Val241=) | dbSNP |
| 3 | g.30672011C>T | CA433058788 | TGFBR2 | c.828C>T (p.Val276=) n.2424C>T c.903C>T (p.Val301=) c.855C>T (p.Val285=) c.780C>T (p.Val260=) c.723C>T (p.Val241=) | dbSNP |
| 3 | g.30672012A>C | CA351807958 | TGFBR2 | c.829A>C (p.Lys277Gln) n.2425A>C c.904A>C (p.Lys302Gln) c.856A>C (p.Lys286Gln) c.781A>C (p.Lys261Gln) c.724A>C (p.Lys242Gln) | |
| 3 | g.30672012A>G | CA351807959 | TGFBR2 | c.829A>G (p.Lys277Glu) n.2425A>G c.904A>G (p.Lys302Glu) c.856A>G (p.Lys286Glu) c.781A>G (p.Lys261Glu) c.724A>G (p.Lys242Glu) | COSMIC |
| 3 | g.30672012A>T | CA351807960 | TGFBR2 | c.829A>T (p.Lys277Ter) n.2425A>T c.904A>T (p.Lys302Ter) c.856A>T (p.Lys286Ter) c.781A>T (p.Lys261Ter) c.724A>T (p.Lys242Ter) | dbSNP |
| 3 | g.30672013A>C | CA351807963 | TGFBR2 | c.830A>C (p.Lys277Thr) n.2426A>C c.905A>C (p.Lys302Thr) c.857A>C (p.Lys286Thr) c.782A>C (p.Lys261Thr) c.725A>C (p.Lys242Thr) | |
| 3 | g.30672013A>G | CA351807961 | TGFBR2 | c.830A>G (p.Lys277Arg) n.2426A>G c.905A>G (p.Lys302Arg) c.857A>G (p.Lys286Arg) c.782A>G (p.Lys261Arg) c.725A>G (p.Lys242Arg) | COSMIC COSMIC |
| 3 | g.30672013A>T | CA351807962 | TGFBR2 | c.830A>T (p.Lys277Met) n.2426A>T c.905A>T (p.Lys302Met) c.857A>T (p.Lys286Met) c.782A>T (p.Lys261Met) c.725A>T (p.Lys242Met) | dbSNP |
| 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) |