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.170998303_170998334del | CA2668524924 | SLC2A2 | c.1235_1266del (p.Glu412GlyfsTer3) c.*702_*733del (n.*702_*733del) c.878_909del (p.Glu293GlyfsTer3) c.716_747del (p.Glu239GlyfsTer3) c.1190_1221del (p.Glu397GlyfsTer3) c.1016_1047del (p.Glu339GlyfsTer3) | gnomAD v4 |
| 3 | g.170998308C>A | CA355485898 | SLC2A2 | c.1259G>T (p.Trp420Leu) c.*726G>T (n.*726G>T) c.902G>T (p.Trp301Leu) c.740G>T (p.Trp247Leu) c.1214G>T (p.Trp405Leu) c.1040G>T (p.Trp347Leu) | dbSNP |
| 3 | g.170998308C= | CA1420161892 | SLC2A2 | c.1259G= (p.Trp420=) c.*726G= (n.*726G=) c.902G= (p.Trp301=) c.740G= (p.Trp247=) c.1214G= (p.Trp405=) c.1040G= (p.Trp347=) | |
| 3 | g.170998308C>G | CA355485897 | SLC2A2 | c.1259G>C (p.Trp420Ser) c.*726G>C (n.*726G>C) c.902G>C (p.Trp301Ser) c.740G>C (p.Trp247Ser) c.1214G>C (p.Trp405Ser) c.1040G>C (p.Trp347Ser) | gnomAD v4 |
| 3 | g.170998308C>T | CA019998 | SLC2A2 | c.1259G>A (p.Trp420Ter) c.*726G>A (n.*726G>A) c.902G>A (p.Trp301Ter) c.740G>A (p.Trp247Ter) c.1214G>A (p.Trp405Ter) c.1040G>A (p.Trp347Ter) | ClinVar dbSNP |
| 3 | g.170998309A>C | CA355485899 | SLC2A2 | c.1258T>G (p.Trp420Gly) c.*725T>G (n.*725T>G) c.901T>G (p.Trp301Gly) c.739T>G (p.Trp247Gly) c.1213T>G (p.Trp405Gly) c.1039T>G (p.Trp347Gly) | |
| 3 | g.170998309A>G | CA355485900 | SLC2A2 | c.1258T>C (p.Trp420Arg) c.*725T>C (n.*725T>C) c.901T>C (p.Trp301Arg) c.739T>C (p.Trp247Arg) c.1213T>C (p.Trp405Arg) c.1039T>C (p.Trp347Arg) | |
| 3 | g.170998309A>T | CA355485901 | SLC2A2 | c.1258T>A (p.Trp420Arg) c.*725T>A (n.*725T>A) c.901T>A (p.Trp301Arg) c.739T>A (p.Trp247Arg) c.1213T>A (p.Trp405Arg) c.1039T>A (p.Trp347Arg) | |
| 3 | g.170998310G>A | CA436772992 | SLC2A2 | c.1257C>T (p.Pro419=) c.*724C>T (n.*724C>T) c.900C>T (p.Pro300=) c.738C>T (p.Pro246=) c.1212C>T (p.Pro404=) c.1038C>T (p.Pro346=) | gnomAD v4 |
| 3 | g.170998310G>C | CA436772993 | SLC2A2 | c.1257C>G (p.Pro419=) c.*724C>G (n.*724C>G) c.900C>G (p.Pro300=) c.738C>G (p.Pro246=) c.1212C>G (p.Pro404=) c.1038C>G (p.Pro346=) | |
| 3 | g.170998310G>T | CA436772994 | SLC2A2 | c.1257C>A (p.Pro419=) c.*724C>A (n.*724C>A) c.900C>A (p.Pro300=) c.738C>A (p.Pro246=) c.1212C>A (p.Pro404=) c.1038C>A (p.Pro346=) | |
| 3 | g.170998311G>A | CA355485902 | SLC2A2 | c.1256C>T (p.Pro419Leu) c.*723C>T (n.*723C>T) c.899C>T (p.Pro300Leu) c.737C>T (p.Pro246Leu) c.1211C>T (p.Pro404Leu) c.1037C>T (p.Pro346Leu) | |
| 3 | g.170998311G>C | CA355485903 | SLC2A2 | c.1256C>G (p.Pro419Arg) c.*723C>G (n.*723C>G) c.899C>G (p.Pro300Arg) c.737C>G (p.Pro246Arg) c.1211C>G (p.Pro404Arg) c.1037C>G (p.Pro346Arg) | |
| 3 | g.170998311G>T | CA355485904 | SLC2A2 | c.1256C>A (p.Pro419His) c.*723C>A (n.*723C>A) c.899C>A (p.Pro300His) c.737C>A (p.Pro246His) c.1211C>A (p.Pro404His) c.1037C>A (p.Pro346His) | |
| 3 | g.170998312G>A | CA355485905 | SLC2A2 | c.1255C>T (p.Pro419Ser) c.*722C>T (n.*722C>T) c.898C>T (p.Pro300Ser) c.736C>T (p.Pro246Ser) c.1210C>T (p.Pro404Ser) c.1036C>T (p.Pro346Ser) | COSMIC |
| 3 | g.170998312G>C | CA355485906 | SLC2A2 | c.1255C>G (p.Pro419Ala) c.*722C>G (n.*722C>G) c.898C>G (p.Pro300Ala) c.736C>G (p.Pro246Ala) c.1210C>G (p.Pro404Ala) c.1036C>G (p.Pro346Ala) | |
| 3 | g.170998312G>T | CA355485907 | SLC2A2 | c.1255C>A (p.Pro419Thr) c.*722C>A (n.*722C>A) c.898C>A (p.Pro300Thr) c.736C>A (p.Pro246Thr) c.1210C>A (p.Pro404Thr) c.1036C>A (p.Pro346Thr) | gnomAD v4 |
| 3 | g.170998313G>A | CA436772995 | SLC2A2 | c.1254C>T (p.Ile418=) c.*721C>T (n.*721C>T) c.897C>T (p.Ile299=) c.735C>T (p.Ile245=) c.1209C>T (p.Ile403=) c.1035C>T (p.Ile345=) | ClinVar dbSNP COSMIC |
| 3 | g.170998313G>C | CA355485908 | SLC2A2 | c.1254C>G (p.Ile418Met) c.*721C>G (n.*721C>G) c.897C>G (p.Ile299Met) c.735C>G (p.Ile245Met) c.1209C>G (p.Ile403Met) c.1035C>G (p.Ile345Met) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.170998313G= | CA1420161893 | SLC2A2 | c.1254C= (p.Ile418=) c.*721C= (n.*721C=) c.897C= (p.Ile299=) c.735C= (p.Ile245=) c.1209C= (p.Ile403=) c.1035C= (p.Ile345=) | |
| 3 | g.170998313G>T | CA436772996 | SLC2A2 | c.1254C>A (p.Ile418=) c.*721C>A (n.*721C>A) c.897C>A (p.Ile299=) c.735C>A (p.Ile245=) c.1209C>A (p.Ile403=) c.1035C>A (p.Ile345=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.170998314A>C | CA355485910 | SLC2A2 | c.1253T>G (p.Ile418Ser) c.*720T>G (n.*720T>G) c.896T>G (p.Ile299Ser) c.734T>G (p.Ile245Ser) c.1208T>G (p.Ile403Ser) c.1034T>G (p.Ile345Ser) | |
| 3 | g.170998314A>G | CA355485911 | SLC2A2 | c.1253T>C (p.Ile418Thr) c.*720T>C (n.*720T>C) c.896T>C (p.Ile299Thr) c.734T>C (p.Ile245Thr) c.1208T>C (p.Ile403Thr) c.1034T>C (p.Ile345Thr) | |
| 3 | g.170998314A>T | CA355485909 | SLC2A2 | c.1253T>A (p.Ile418Asn) c.*720T>A (n.*720T>A) c.896T>A (p.Ile299Asn) c.734T>A (p.Ile245Asn) c.1208T>A (p.Ile403Asn) c.1034T>A (p.Ile345Asn) | |
| 3 | g.170998315T>A | CA355485912 | SLC2A2 | c.1252A>T (p.Ile418Phe) c.*719A>T (n.*719A>T) c.895A>T (p.Ile299Phe) c.733A>T (p.Ile245Phe) c.1207A>T (p.Ile403Phe) c.1033A>T (p.Ile345Phe) | |
| 3 | g.170998315T>C | CA355485913 | SLC2A2 | c.1252A>G (p.Ile418Val) c.*719A>G (n.*719A>G) c.895A>G (p.Ile299Val) c.733A>G (p.Ile245Val) c.1207A>G (p.Ile403Val) c.1033A>G (p.Ile345Val) | |
| 3 | g.170998315T>G | CA355485914 | SLC2A2 | c.1252A>C (p.Ile418Leu) c.*719A>C (n.*719A>C) c.895A>C (p.Ile299Leu) c.733A>C (p.Ile245Leu) c.1207A>C (p.Ile403Leu) c.1033A>C (p.Ile345Leu) | |
| 3 | g.170998316C>A | CA436772997 | SLC2A2 | c.1251G>T (p.Pro417=) c.*718G>T (n.*718G>T) c.894G>T (p.Pro298=) c.732G>T (p.Pro244=) c.1206G>T (p.Pro402=) c.1032G>T (p.Pro344=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.170998316C= | CA1420161894 | SLC2A2 | c.1251G= (p.Pro417=) c.*718G= (n.*718G=) c.894G= (p.Pro298=) c.732G= (p.Pro244=) c.1206G= (p.Pro402=) c.1032G= (p.Pro344=) | |
| 3 | g.170998316C>G | CA436772998 | SLC2A2 | c.1251G>C (p.Pro417=) c.*718G>C (n.*718G>C) c.894G>C (p.Pro298=) c.732G>C (p.Pro244=) c.1206G>C (p.Pro402=) c.1032G>C (p.Pro344=) | |
| 3 | g.170998316C>T | CA2702446 | SLC2A2 | c.1251G>A (p.Pro417=) c.*718G>A (n.*718G>A) c.894G>A (p.Pro298=) c.732G>A (p.Pro244=) c.1206G>A (p.Pro402=) c.1032G>A (p.Pro344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.170998317G>A | CA019992 | SLC2A2 | c.1250C>T (p.Pro417Leu) c.*717C>T (n.*717C>T) c.893C>T (p.Pro298Leu) c.731C>T (p.Pro244Leu) c.1205C>T (p.Pro402Leu) c.1031C>T (p.Pro344Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.170998317G>C | CA87705019 | SLC2A2 | c.1250C>G (p.Pro417Arg) c.*717C>G (n.*717C>G) c.893C>G (p.Pro298Arg) c.731C>G (p.Pro244Arg) c.1205C>G (p.Pro402Arg) c.1031C>G (p.Pro344Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.170998317G= | CA1420161895 | SLC2A2 | c.1250C= (p.Pro417=) c.*717C= (n.*717C=) c.893C= (p.Pro298=) c.731C= (p.Pro244=) c.1205C= (p.Pro402=) c.1031C= (p.Pro344=) | |
| 3 | g.170998317G>T | CA355485915 | SLC2A2 | c.1250C>A (p.Pro417Gln) c.*717C>A (n.*717C>A) c.893C>A (p.Pro298Gln) c.731C>A (p.Pro244Gln) c.1205C>A (p.Pro402Gln) c.1031C>A (p.Pro344Gln) | ClinVar |
| 3 | g.170998318G>A | CA355485916 | SLC2A2 | c.1249C>T (p.Pro417Ser) c.*716C>T (n.*716C>T) c.892C>T (p.Pro298Ser) c.730C>T (p.Pro244Ser) c.1204C>T (p.Pro402Ser) c.1030C>T (p.Pro344Ser) | gnomAD v4 |
| 3 | g.170998318G>C | CA355485917 | SLC2A2 | c.1249C>G (p.Pro417Ala) c.*716C>G (n.*716C>G) c.892C>G (p.Pro298Ala) c.730C>G (p.Pro244Ala) c.1204C>G (p.Pro402Ala) c.1030C>G (p.Pro344Ala) | |
| 3 | g.170998318G>T | CA355485918 | SLC2A2 | c.1249C>A (p.Pro417Thr) c.*716C>A (n.*716C>A) c.892C>A (p.Pro298Thr) c.730C>A (p.Pro244Thr) c.1204C>A (p.Pro402Thr) c.1030C>A (p.Pro344Thr) | |
| 3 | g.170998319G>A | CA436773000 | SLC2A2 | c.1248C>T (p.Gly416=) c.*715C>T (n.*715C>T) c.891C>T (p.Gly297=) c.729C>T (p.Gly243=) c.1203C>T (p.Gly401=) c.1029C>T (p.Gly343=) | |
| 3 | g.170998319G>C | CA436773001 | SLC2A2 | c.1248C>G (p.Gly416=) c.*715C>G (n.*715C>G) c.891C>G (p.Gly297=) c.729C>G (p.Gly243=) c.1203C>G (p.Gly401=) c.1029C>G (p.Gly343=) | |
| 3 | g.170998319G>T | CA436773002 | SLC2A2 | c.1248C>A (p.Gly416=) c.*715C>A (n.*715C>A) c.891C>A (p.Gly297=) c.729C>A (p.Gly243=) c.1203C>A (p.Gly401=) c.1029C>A (p.Gly343=) | |
| 3 | g.170998320C>A | CA355485919 | SLC2A2 | c.1247G>T (p.Gly416Val) c.*714G>T (n.*714G>T) c.890G>T (p.Gly297Val) c.728G>T (p.Gly243Val) c.1202G>T (p.Gly401Val) c.1028G>T (p.Gly343Val) | |
| 3 | g.170998320C>G | CA355485920 | SLC2A2 | c.1247G>C (p.Gly416Ala) c.*714G>C (n.*714G>C) c.890G>C (p.Gly297Ala) c.728G>C (p.Gly243Ala) c.1202G>C (p.Gly401Ala) c.1028G>C (p.Gly343Ala) | |
| 3 | g.170998320C>T | CA355485921 | SLC2A2 | c.1247G>A (p.Gly416Asp) c.*714G>A (n.*714G>A) c.890G>A (p.Gly297Asp) c.728G>A (p.Gly243Asp) c.1202G>A (p.Gly401Asp) c.1028G>A (p.Gly343Asp) | |
| 3 | g.170998321C>A | CA355485924 | SLC2A2 | c.1246G>T (p.Gly416Cys) c.*713G>T (n.*713G>T) c.889G>T (p.Gly297Cys) c.727G>T (p.Gly243Cys) c.1201G>T (p.Gly401Cys) c.1027G>T (p.Gly343Cys) | COSMIC |
| 3 | g.170998321C= | CA1420161896 | SLC2A2 | c.1246G= (p.Gly416=) c.*713G= (n.*713G=) c.889G= (p.Gly297=) c.727G= (p.Gly243=) c.1201G= (p.Gly401=) c.1027G= (p.Gly343=) | |
| 3 | g.170998321C>G | CA355485923 | SLC2A2 | c.1246G>C (p.Gly416Arg) c.*713G>C (n.*713G>C) c.889G>C (p.Gly297Arg) c.727G>C (p.Gly243Arg) c.1201G>C (p.Gly401Arg) c.1027G>C (p.Gly343Arg) | |
| 3 | g.170998321C>T | CA355485922 | SLC2A2 | c.1246G>A (p.Gly416Ser) c.*713G>A (n.*713G>A) c.889G>A (p.Gly297Ser) c.727G>A (p.Gly243Ser) c.1201G>A (p.Gly401Ser) c.1027G>A (p.Gly343Ser) | ClinVar dbSNP |
| 3 | g.170998322T>A | CA436773007 | SLC2A2 | c.1245A>T (p.Pro415=) c.*712A>T (n.*712A>T) c.888A>T (p.Pro296=) c.726A>T (p.Pro242=) c.1200A>T (p.Pro400=) c.1026A>T (p.Pro342=) | |
| 3 | g.170998322T>C | CA436773006 | SLC2A2 | c.1245A>G (p.Pro415=) c.*712A>G (n.*712A>G) c.888A>G (p.Pro296=) c.726A>G (p.Pro242=) c.1200A>G (p.Pro400=) c.1026A>G (p.Pro342=) |