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.128481123T>A | CA354412709 | GATA2 | c.1339A>T (p.Ser447Cys) c.1621A>T (p.Ser541Cys) c.314A>T (p.Gln105Leu) c.1297A>T (p.Ser433Cys) n.456A>T | |
| 3 | g.128481123T>C | CA354412710 | GATA2 | c.1339A>G (p.Ser447Gly) c.1621A>G (p.Ser541Gly) c.314A>G (p.Gln105Arg) c.1297A>G (p.Ser433Gly) n.456A>G | ClinVar |
| 3 | g.128481123T>G | CA354412712 | GATA2 | c.1339A>C (p.Ser447Arg) c.1621A>C (p.Ser541Arg) c.314A>C (p.Gln105Pro) c.1297A>C (p.Ser433Arg) n.456A>C | ClinVar dbSNP |
| 3 | g.128481123T= | CA1400713951 | GATA2 | c.1339A= (p.Ser447=) c.1621A= (p.Ser541=) c.314A= (p.Gln105=) c.1297A= (p.Ser433=) n.456A= | |
| 3 | g.128481124G>A | CA435524452 | GATA2 | c.1338C>T (p.Phe446=) c.1620C>T (p.Phe540=) c.313C>T (p.Gln105Ter) c.1296C>T (p.Phe432=) n.455C>T | dbSNP gnomAD v4 |
| 3 | g.128481124G>C | CA354412713 | GATA2 | c.1338C>G (p.Phe446Leu) c.1620C>G (p.Phe540Leu) c.313C>G (p.Gln105Glu) c.1296C>G (p.Phe432Leu) n.455C>G | |
| 3 | g.128481124G>T | CA354412715 | GATA2 | c.1338C>A (p.Phe446Leu) c.1620C>A (p.Phe540Leu) c.313C>A (p.Gln105Lys) c.1296C>A (p.Phe432Leu) n.455C>A | ClinVar |
| 3 | g.128481125A= | CA1400713955 | GATA2 | c.1337T= (p.Phe446=) c.1619T= (p.Phe540=) c.312T= (p.Leu104=) c.1295T= (p.Phe432=) n.454T= | |
| 3 | g.128481125A>C | CA354412720 | GATA2 | c.1337T>G (p.Phe446Cys) c.1619T>G (p.Phe540Cys) c.312T>G (p.Leu104=) c.1295T>G (p.Phe432Cys) n.454T>G | |
| 3 | g.128481125A>G | CA354412718 | GATA2 | c.1337T>C (p.Phe446Ser) c.1619T>C (p.Phe540Ser) c.312T>C (p.Leu104=) c.1295T>C (p.Phe432Ser) n.454T>C | |
| 3 | g.128481125A>T | CA354412716 | GATA2 | c.1337T>A (p.Phe446Tyr) c.1619T>A (p.Phe540Tyr) c.312T>A (p.Leu104=) c.1295T>A (p.Phe432Tyr) n.454T>A | ClinVar dbSNP |
| 3 | g.128481126A>C | CA354412721 | GATA2 | c.1336T>G (p.Phe446Val) c.1618T>G (p.Phe540Val) c.311T>G (p.Leu104Arg) c.1294T>G (p.Phe432Val) n.453T>G | |
| 3 | g.128481126A>G | CA354412722 | GATA2 | c.1336T>C (p.Phe446Leu) c.1618T>C (p.Phe540Leu) c.311T>C (p.Leu104Pro) c.1294T>C (p.Phe432Leu) n.453T>C | |
| 3 | g.128481126A>T | CA354412723 | GATA2 | c.1336T>A (p.Phe446Ile) c.1618T>A (p.Phe540Ile) c.311T>A (p.Leu104His) c.1294T>A (p.Phe432Ile) n.453T>A | |
| 3 | g.128481127G>A | CA435524458 | GATA2 | c.1335C>T (p.Pro445=) c.1617C>T (p.Pro539=) c.310C>T (p.Leu104Phe) c.1293C>T (p.Pro431=) n.452C>T | dbSNP gnomAD v4 |
| 3 | g.128481127G>C | CA435524459 | GATA2 | c.1335C>G (p.Pro445=) c.1617C>G (p.Pro539=) c.310C>G (p.Leu104Val) c.1293C>G (p.Pro431=) n.452C>G | |
| 3 | g.128481127G>T | CA435524461 | GATA2 | c.1335C>A (p.Pro445=) c.1617C>A (p.Pro539=) c.310C>A (p.Leu104Ile) c.1293C>A (p.Pro431=) n.452C>A | |
| 3 | g.128481128G>A | CA83376225 | GATA2 | c.1334C>T (p.Pro445Leu) c.1616C>T (p.Pro539Leu) c.309C>T (p.Ala103=) c.1292C>T (p.Pro431Leu) n.451C>T | ClinVar dbSNP |
| 3 | g.128481128G>C | CA354412724 | GATA2 | c.1334C>G (p.Pro445Arg) c.1616C>G (p.Pro539Arg) c.309C>G (p.Ala103=) c.1292C>G (p.Pro431Arg) n.451C>G | |
| 3 | g.128481128G= | CA1400713957 | GATA2 | c.1334C= (p.Pro445=) c.1616C= (p.Pro539=) c.309C= (p.Ala103=) c.1292C= (p.Pro431=) n.451C= | |
| 3 | g.128481128G>T | CA354412725 | GATA2 | c.1334C>A (p.Pro445His) c.1616C>A (p.Pro539His) c.309C>A (p.Ala103=) c.1292C>A (p.Pro431His) n.451C>A | |
| 3 | g.128481129G>A | CA354412727 | GATA2 | c.1333C>T (p.Pro445Ser) c.1615C>T (p.Pro539Ser) c.308C>T (p.Ala103Val) c.1291C>T (p.Pro431Ser) n.450C>T | |
| 3 | g.128481129G>C | CA354412730 | GATA2 | c.1333C>G (p.Pro445Ala) c.1615C>G (p.Pro539Ala) c.308C>G (p.Ala103Gly) c.1291C>G (p.Pro431Ala) n.450C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481129G= | CA1400713959 | GATA2 | c.1333C= (p.Pro445=) c.1615C= (p.Pro539=) c.308C= (p.Ala103=) c.1291C= (p.Pro431=) n.450C= | |
| 3 | g.128481129G>T | CA354412729 | GATA2 | c.1333C>A (p.Pro445Thr) c.1615C>A (p.Pro539Thr) c.308C>A (p.Ala103Asp) c.1291C>A (p.Pro431Thr) n.450C>A | |
| 3 | g.128481130C>A | CA435524466 | GATA2 | c.1332G>T (p.Pro444=) c.1614G>T (p.Pro538=) c.307G>T (p.Ala103Ser) c.1290G>T (p.Pro430=) n.449G>T | gnomAD v4 |
| 3 | g.128481130C= | CA1400713964 | GATA2 | c.1332G= (p.Pro444=) c.1614G= (p.Pro538=) c.307G= (p.Ala103=) c.1290G= (p.Pro430=) n.449G= | |
| 3 | g.128481130C>G | CA435524468 | GATA2 | c.1332G>C (p.Pro444=) c.1614G>C (p.Pro538=) c.307G>C (p.Ala103Pro) c.1290G>C (p.Pro430=) n.449G>C | dbSNP |
| 3 | g.128481130C>T | CA2599797 | GATA2 | c.1332G>A (p.Pro444=) c.1614G>A (p.Pro538=) c.307G>A (p.Ala103Thr) c.1290G>A (p.Pro430=) n.449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481131G>A | CA2599798 | GATA2 | c.1331C>T (p.Pro444Leu) c.1613C>T (p.Pro538Leu) c.306C>T (p.Pro102=) c.1289C>T (p.Pro430Leu) n.448C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481131G>C | CA354412733 | GATA2 | c.1331C>G (p.Pro444Arg) c.1613C>G (p.Pro538Arg) c.306C>G (p.Pro102=) c.1289C>G (p.Pro430Arg) n.448C>G | ClinVar |
| 3 | g.128481131G= | CA1400713969 | GATA2 | c.1331C= (p.Pro444=) c.1613C= (p.Pro538=) c.306C= (p.Pro102=) c.1289C= (p.Pro430=) n.448C= | |
| 3 | g.128481131G>T | CA354412735 | GATA2 | c.1331C>A (p.Pro444Gln) c.1613C>A (p.Pro538Gln) c.306C>A (p.Pro102=) c.1289C>A (p.Pro430Gln) n.448C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481132G>A | CA2599799 | GATA2 | c.1330C>T (p.Pro444Ser) c.1612C>T (p.Pro538Ser) c.305C>T (p.Pro102Leu) c.1288C>T (p.Pro430Ser) n.447C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481132G>C | CA354412737 | GATA2 | c.1330C>G (p.Pro444Ala) c.1612C>G (p.Pro538Ala) c.305C>G (p.Pro102Arg) c.1288C>G (p.Pro430Ala) n.447C>G | |
| 3 | g.128481132G= | CA1400713974 | GATA2 | c.1330C= (p.Pro444=) c.1612C= (p.Pro538=) c.305C= (p.Pro102=) c.1288C= (p.Pro430=) n.447C= | |
| 3 | g.128481132G>T | CA354412739 | GATA2 | c.1330C>A (p.Pro444Thr) c.1612C>A (p.Pro538Thr) c.305C>A (p.Pro102His) c.1288C>A (p.Pro430Thr) n.447C>A | |
| 3 | g.128481133G>A | CA435524472 | GATA2 | c.1329C>T (p.Leu443=) c.1611C>T (p.Leu537=) c.304C>T (p.Pro102Ser) c.1287C>T (p.Leu429=) n.446C>T | |
| 3 | g.128481133G>C | CA435524474 | GATA2 | c.1329C>G (p.Leu443=) c.1611C>G (p.Leu537=) c.304C>G (p.Pro102Ala) c.1287C>G (p.Leu429=) n.446C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481133G= | CA1400713979 | GATA2 | c.1329C= (p.Leu443=) c.1611C= (p.Leu537=) c.304C= (p.Pro102=) c.1287C= (p.Leu429=) n.446C= | |
| 3 | g.128481133G>T | CA2599800 | GATA2 | c.1329C>A (p.Leu443=) c.1611C>A (p.Leu537=) c.304C>A (p.Pro102Thr) c.1287C>A (p.Leu429=) n.446C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481134A>C | CA354412741 | GATA2 | c.1328T>G (p.Leu443Arg) c.1610T>G (p.Leu537Arg) c.303T>G (p.Pro101=) c.1286T>G (p.Leu429Arg) n.445T>G | |
| 3 | g.128481134A>G | CA354412742 | GATA2 | c.1328T>C (p.Leu443Pro) c.1610T>C (p.Leu537Pro) c.303T>C (p.Pro101=) c.1286T>C (p.Leu429Pro) n.445T>C | |
| 3 | g.128481134A>T | CA354412744 | GATA2 | c.1328T>A (p.Leu443His) c.1610T>A (p.Leu537His) c.303T>A (p.Pro101=) c.1286T>A (p.Leu429His) n.445T>A | |
| 3 | g.128481135G>A | CA354412746 | GATA2 | c.1327C>T (p.Leu443Phe) c.1609C>T (p.Leu537Phe) c.302C>T (p.Pro101Leu) c.1285C>T (p.Leu429Phe) n.444C>T | |
| 3 | g.128481135G>C | CA354412749 | GATA2 | c.1327C>G (p.Leu443Val) c.1609C>G (p.Leu537Val) c.302C>G (p.Pro101Arg) c.1285C>G (p.Leu429Val) n.444C>G | |
| 3 | g.128481135G>T | CA354412747 | GATA2 | c.1327C>A (p.Leu443Ile) c.1609C>A (p.Leu537Ile) c.302C>A (p.Pro101His) c.1285C>A (p.Leu429Ile) n.444C>A | COSMIC |
| 3 | g.128481135_128481140del | CA2703922380 | GATA2 | c.1322_1327del (p.Gly441_Leu443delinsVal) c.1604_1609del (p.Gly535_Leu537delinsVal) c.297_302del (p.Pro100_Pro101del) c.1280_1285del (p.Gly427_Leu429delinsVal) n.439_444del | dbSNP |
| 3 | g.128481136G>A | CA10614764 | GATA2 | c.1326C>T (p.His442=) c.1608C>T (p.His536=) c.301C>T (p.Pro101Ser) c.1284C>T (p.His428=) n.443C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |