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.128479422_128481318dup | CA1139532682 | |||
| 3 | g.128481219C>A | CA354413008 | GATA2 | c.1243G>T (p.Glu415Ter) c.1525G>T (p.Glu509Ter) c.218G>T (p.Arg73Leu) c.1201G>T (p.Glu401Ter) n.360G>T | |
| 3 | g.128481219C= | CA1400714166 | GATA2 | c.1243G= (p.Glu415=) c.1525G= (p.Glu509=) c.218G= (p.Arg73=) c.1201G= (p.Glu401=) n.360G= | |
| 3 | g.128481219C>G | CA354413011 | GATA2 | c.1243G>C (p.Glu415Gln) c.1525G>C (p.Glu509Gln) c.218G>C (p.Arg73Pro) c.1201G>C (p.Glu401Gln) n.360G>C | |
| 3 | g.128481219C>T | CA354413009 | GATA2 | c.1243G>A (p.Glu415Lys) c.1525G>A (p.Glu509Lys) c.218G>A (p.Arg73Gln) c.1201G>A (p.Glu401Lys) n.360G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128481220G>A | CA2599813 | GATA2 | c.1242C>T (p.Phe414=) c.1524C>T (p.Phe508=) c.217C>T (p.Arg73Ter) c.1200C>T (p.Phe400=) n.359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481220G>C | CA2599814 | GATA2 | c.1242C>G (p.Phe414Leu) c.1524C>G (p.Phe508Leu) c.217C>G (p.Arg73Gly) c.1200C>G (p.Phe400Leu) n.359C>G | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.128481220G= | CA1400714172 | GATA2 | c.1242C= (p.Phe414=) c.1524C= (p.Phe508=) c.217C= (p.Arg73=) c.1200C= (p.Phe400=) n.359C= | |
| 3 | g.128481220G>T | CA354413013 | GATA2 | c.1242C>A (p.Phe414Leu) c.1524C>A (p.Phe508Leu) c.217C>A (p.Arg73=) c.1200C>A (p.Phe400Leu) n.359C>A | |
| 3 | g.128481221A>C | CA354413015 | GATA2 | c.1241T>G (p.Phe414Cys) c.1523T>G (p.Phe508Cys) c.216T>G (p.Leu72=) c.1199T>G (p.Phe400Cys) n.358T>G | |
| 3 | g.128481221A>G | CA354413018 | GATA2 | c.1241T>C (p.Phe414Ser) c.1523T>C (p.Phe508Ser) c.216T>C (p.Leu72=) c.1199T>C (p.Phe400Ser) n.358T>C | ClinVar |
| 3 | g.128481221A>T | CA354413017 | GATA2 | c.1241T>A (p.Phe414Tyr) c.1523T>A (p.Phe508Tyr) c.216T>A (p.Leu72=) c.1199T>A (p.Phe400Tyr) n.358T>A | |
| 3 | g.128481222A>C | CA354413020 | GATA2 | c.1240T>G (p.Phe414Val) c.1522T>G (p.Phe508Val) c.215T>G (p.Leu72Arg) c.1198T>G (p.Phe400Val) n.357T>G | |
| 3 | g.128481222A>G | CA354413023 | GATA2 | c.1240T>C (p.Phe414Leu) c.1522T>C (p.Phe508Leu) c.215T>C (p.Leu72Pro) c.1198T>C (p.Phe400Leu) n.357T>C | |
| 3 | g.128481222A>T | CA354413022 | GATA2 | c.1240T>A (p.Phe414Ile) c.1522T>A (p.Phe508Ile) c.215T>A (p.Leu72His) c.1198T>A (p.Phe400Ile) n.357T>A | |
| 3 | g.128481223G>A | CA435524985 | GATA2 | c.1239C>T (p.Cys413=) c.1521C>T (p.Cys507=) c.214C>T (p.Leu72Phe) c.1197C>T (p.Cys399=) n.356C>T | |
| 3 | g.128481223G>C | CA354413025 | GATA2 | c.1239C>G (p.Cys413Trp) c.1521C>G (p.Cys507Trp) c.214C>G (p.Leu72Val) c.1197C>G (p.Cys399Trp) n.356C>G | |
| 3 | g.128481223G>T | CA354413026 | GATA2 | c.1239C>A (p.Cys413Ter) c.1521C>A (p.Cys507Ter) c.214C>A (p.Leu72Ile) c.1197C>A (p.Cys399Ter) n.356C>A | |
| 3 | g.128481224C>A | CA354413028 | GATA2 | c.1238G>T (p.Cys413Phe) c.1520G>T (p.Cys507Phe) c.213G>T (p.Val71=) c.1196G>T (p.Cys399Phe) n.355G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481224C= | CA1400714177 | GATA2 | c.1238G= (p.Cys413=) c.1520G= (p.Cys507=) c.213G= (p.Val71=) c.1196G= (p.Cys399=) n.355G= | |
| 3 | g.128481224C>G | CA354413032 | GATA2 | c.1238G>C (p.Cys413Ser) c.1520G>C (p.Cys507Ser) c.213G>C (p.Val71=) c.1196G>C (p.Cys399Ser) n.355G>C | |
| 3 | g.128481224C>T | CA354413030 | GATA2 | c.1238G>A (p.Cys413Tyr) c.1520G>A (p.Cys507Tyr) c.213G>A (p.Val71=) c.1196G>A (p.Cys399Tyr) n.355G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481225A>C | CA354413033 | GATA2 | c.1237T>G (p.Cys413Gly) c.1519T>G (p.Cys507Gly) c.212T>G (p.Val71Gly) c.1195T>G (p.Cys399Gly) n.354T>G | |
| 3 | g.128481225A>G | CA354413036 | GATA2 | c.1237T>C (p.Cys413Arg) c.1519T>C (p.Cys507Arg) c.212T>C (p.Val71Ala) c.1195T>C (p.Cys399Arg) n.354T>C | |
| 3 | g.128481225A>T | CA354413034 | GATA2 | c.1237T>A (p.Cys413Ser) c.1519T>A (p.Cys507Ser) c.212T>A (p.Val71Glu) c.1195T>A (p.Cys399Ser) n.354T>A | |
| 3 | g.128481226C>A | CA354413038 | GATA2 | c.1236G>T (p.Glu412Asp) c.1518G>T (p.Glu506Asp) c.211G>T (p.Val71Leu) c.1194G>T (p.Glu398Asp) n.353G>T | ClinVar dbSNP |
| 3 | g.128481226C= | CA1400714180 | GATA2 | c.1236G= (p.Glu412=) c.1518G= (p.Glu506=) c.211G= (p.Val71=) c.1194G= (p.Glu398=) n.353G= | |
| 3 | g.128481226C>G | CA354413040 | GATA2 | c.1236G>C (p.Glu412Asp) c.1518G>C (p.Glu506Asp) c.211G>C (p.Val71Leu) c.1194G>C (p.Glu398Asp) n.353G>C | |
| 3 | g.128481226C>T | CA435524992 | GATA2 | c.1236G>A (p.Glu412=) c.1518G>A (p.Glu506=) c.211G>A (p.Val71Met) c.1194G>A (p.Glu398=) n.353G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481227T>A | CA354413041 | GATA2 | c.1235A>T (p.Glu412Val) c.1517A>T (p.Glu506Val) c.210A>T (p.Gly70=) c.1193A>T (p.Glu398Val) n.352A>T | |
| 3 | g.128481227T>C | CA354413043 | GATA2 | c.1235A>G (p.Glu412Gly) c.1517A>G (p.Glu506Gly) c.210A>G (p.Gly70=) c.1193A>G (p.Glu398Gly) n.352A>G | |
| 3 | g.128481227T>G | CA354413045 | GATA2 | c.1235A>C (p.Glu412Ala) c.1517A>C (p.Glu506Ala) c.210A>C (p.Gly70=) c.1193A>C (p.Glu398Ala) n.352A>C | |
| 3 | g.128481228C>A | CA354413046 | GATA2 | c.1234G>T (p.Glu412Ter) c.1516G>T (p.Glu506Ter) c.209G>T (p.Gly70Val) c.1192G>T (p.Glu398Ter) n.351G>T | |
| 3 | g.128481228C>G | CA354413047 | GATA2 | c.1234G>C (p.Glu412Gln) c.1516G>C (p.Glu506Gln) c.209G>C (p.Gly70Ala) c.1192G>C (p.Glu398Gln) n.351G>C | |
| 3 | g.128481228C>T | CA354413048 | GATA2 | c.1234G>A (p.Glu412Lys) c.1516G>A (p.Glu506Lys) c.209G>A (p.Gly70Glu) c.1192G>A (p.Glu398Lys) n.351G>A | gnomAD v4 |
| 3 | g.128481229C>A | CA435524997 | GATA2 | c.1233G>T (p.Ala411=) c.1515G>T (p.Ala505=) c.208G>T (p.Gly70Ter) c.1191G>T (p.Ala397=) n.350G>T | |
| 3 | g.128481229C= | CA1400714184 | GATA2 | c.1233G= (p.Ala411=) c.1515G= (p.Ala505=) c.208G= (p.Gly70=) c.1191G= (p.Ala397=) n.350G= | |
| 3 | g.128481229C>G | CA435524999 | GATA2 | c.1233G>C (p.Ala411=) c.1515G>C (p.Ala505=) c.208G>C (p.Gly70Arg) c.1191G>C (p.Ala397=) n.350G>C | |
| 3 | g.128481229C>T | CA2599815 | GATA2 | c.1233G>A (p.Ala411=) c.1515G>A (p.Ala505=) c.208G>A (p.Gly70Arg) c.1191G>A (p.Ala397=) n.350G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481230G>A | CA2599816 | GATA2 | c.1232C>T (p.Ala411Val) c.1514C>T (p.Ala505Val) c.207C>T (p.Gly69=) c.1190C>T (p.Ala397Val) n.349C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481230G>C | CA354413051 | GATA2 | c.1232C>G (p.Ala411Gly) c.1514C>G (p.Ala505Gly) c.207C>G (p.Gly69=) c.1190C>G (p.Ala397Gly) n.349C>G | |
| 3 | g.128481230G= | CA1400714193 | GATA2 | c.1232C= (p.Ala411=) c.1514C= (p.Ala505=) c.207C= (p.Gly69=) c.1190C= (p.Ala397=) n.349C= | |
| 3 | g.128481230G>T | CA354413053 | GATA2 | c.1232C>A (p.Ala411Glu) c.1514C>A (p.Ala505Glu) c.207C>A (p.Gly69=) c.1190C>A (p.Ala397Glu) n.349C>A | ClinVar dbSNP |
| 3 | g.128481231C>A | CA354413058 | GATA2 | c.1231G>T (p.Ala411Ser) c.1513G>T (p.Ala505Ser) c.206G>T (p.Gly69Val) c.1189G>T (p.Ala397Ser) n.348G>T | |
| 3 | g.128481231C= | CA1400714198 | GATA2 | c.1231G= (p.Ala411=) c.1513G= (p.Ala505=) c.206G= (p.Gly69=) c.1189G= (p.Ala397=) n.348G= | |
| 3 | g.128481231C>G | CA354413056 | GATA2 | c.1231G>C (p.Ala411Pro) c.1513G>C (p.Ala505Pro) c.206G>C (p.Gly69Ala) c.1189G>C (p.Ala397Pro) n.348G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481231C>T | CA354413054 | GATA2 | c.1231G>A (p.Ala411Thr) c.1513G>A (p.Ala505Thr) c.206G>A (p.Gly69Asp) c.1189G>A (p.Ala397Thr) n.348G>A | gnomAD v4 |
| 3 | g.128481232C>A | CA435525004 | GATA2 | c.1230G>T (p.Gly410=) c.1512G>T (p.Gly504=) c.205G>T (p.Gly69Cys) c.1188G>T (p.Gly396=) n.347G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481232C= | CA1400714201 | GATA2 | c.1230G= (p.Gly410=) c.1512G= (p.Gly504=) c.205G= (p.Gly69=) c.1188G= (p.Gly396=) n.347G= | |
| 3 | g.128481232C>G | CA435525005 | GATA2 | c.1230G>C (p.Gly410=) c.1512G>C (p.Gly504=) c.205G>C (p.Gly69Arg) c.1188G>C (p.Gly396=) n.347G>C |