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 |
|---|---|---|---|---|---|
| X | g.55009241_55009244del | CA340983 | ALAS2 | c.1706_1709del (p.Glu569GlyfsTer24) c.1595_1598del (p.Glu532GlyfsTer24) c.1667_1670del (p.Glu556GlyfsTer24) n.834_837del c.1778_1781del (p.Glu593GlyfsTer24) c.845_848del (p.Glu282GlyfsTer24) | ClinVar dbSNP |
| X | g.55009242T>A | CA413290305 | ALAS2 | c.1702A>T (p.Ser568Cys) c.1591A>T (p.Ser531Cys) c.1663A>T (p.Ser555Cys) n.830A>T c.1774A>T (p.Ser592Cys) c.841A>T (p.Ser281Cys) | |
| X | g.55009242T>C | CA121088 | ALAS2 | c.1702A>G (p.Ser568Gly) c.1591A>G (p.Ser531Gly) c.1663A>G (p.Ser555Gly) n.830A>G c.1774A>G (p.Ser592Gly) c.841A>G (p.Ser281Gly) | ClinVar dbSNP |
| X | g.55009242T>G | CA413290307 | ALAS2 | c.1702A>C (p.Ser568Arg) c.1591A>C (p.Ser531Arg) c.1663A>C (p.Ser555Arg) n.830A>C c.1774A>C (p.Ser592Arg) c.841A>C (p.Ser281Arg) | |
| X | g.55009242T= | CA2430388716 | ALAS2 | c.1702A= (p.Ser568=) c.1591A= (p.Ser531=) c.1663A= (p.Ser555=) n.830A= c.1774A= (p.Ser592=) c.841A= (p.Ser281=) | |
| X | g.55009243C>A | CA413290309 | ALAS2 | c.1701G>T (p.Met567Ile) c.1590G>T (p.Met530Ile) c.1662G>T (p.Met554Ile) n.829G>T c.1773G>T (p.Met591Ile) c.840G>T (p.Met280Ile) | |
| X | g.55009243C>G | CA413290311 | ALAS2 | c.1701G>C (p.Met567Ile) c.1590G>C (p.Met530Ile) c.1662G>C (p.Met554Ile) n.829G>C c.1773G>C (p.Met591Ile) c.840G>C (p.Met280Ile) | |
| X | g.55009243C>T | CA413290313 | ALAS2 | c.1701G>A (p.Met567Ile) c.1590G>A (p.Met530Ile) c.1662G>A (p.Met554Ile) n.829G>A c.1773G>A (p.Met591Ile) c.840G>A (p.Met280Ile) | |
| X | g.55009243_55009245delinsCAT | CA2430388717 | ALAS2 | c.1699_1701delinsATG (p.Met567=) c.1588_1590delinsATG (p.Met530=) c.1660_1662delinsATG (p.Met554=) n.827_829delinsATG c.1771_1773delinsATG (p.Met591=) c.838_840delinsATG (p.Met280=) | |
| X | g.55009244A>C | CA413290315 | ALAS2 | c.1700T>G (p.Met567Arg) c.1589T>G (p.Met530Arg) c.1661T>G (p.Met554Arg) n.828T>G c.1772T>G (p.Met591Arg) c.839T>G (p.Met280Arg) | |
| X | g.55009244A>G | CA413290318 | ALAS2 | c.1700T>C (p.Met567Thr) c.1589T>C (p.Met530Thr) c.1661T>C (p.Met554Thr) n.828T>C c.1772T>C (p.Met591Thr) c.839T>C (p.Met280Thr) | |
| X | g.55009244A>T | CA413290320 | ALAS2 | c.1700T>A (p.Met567Lys) c.1589T>A (p.Met530Lys) c.1661T>A (p.Met554Lys) n.828T>A c.1772T>A (p.Met591Lys) c.839T>A (p.Met280Lys) | |
| X | g.55009244_55009245del | CA340984 | ALAS2 | c.1699_1700del (p.Met567GlufsTer2) c.1588_1589del (p.Met530GlufsTer2) c.1660_1661del (p.Met554GlufsTer2) n.827_828del c.1771_1772del (p.Met591GlufsTer2) c.838_839del (p.Met280GlufsTer2) | ClinVar dbSNP |
| X | g.55009245T>A | CA413290323 | ALAS2 | c.1699A>T (p.Met567Leu) c.1588A>T (p.Met530Leu) c.1660A>T (p.Met554Leu) n.827A>T c.1771A>T (p.Met591Leu) c.838A>T (p.Met280Leu) | |
| X | g.55009245T>C | CA320358 | ALAS2 | c.1699A>G (p.Met567Val) c.1588A>G (p.Met530Val) c.1660A>G (p.Met554Val) n.827A>G c.1771A>G (p.Met591Val) c.838A>G (p.Met280Val) | ClinVar dbSNP |
| X | g.55009245T>G | CA413290325 | ALAS2 | c.1699A>C (p.Met567Leu) c.1588A>C (p.Met530Leu) c.1660A>C (p.Met554Leu) n.827A>C c.1771A>C (p.Met591Leu) c.838A>C (p.Met280Leu) | |
| X | g.55009245T= | CA2430388718 | ALAS2 | c.1699A= (p.Met567=) c.1588A= (p.Met530=) c.1660A= (p.Met554=) n.827A= c.1771A= (p.Met591=) c.838A= (p.Met280=) | |
| X | g.55009246G>A | CA516580828 | ALAS2 | c.1698C>T (p.Leu566=) c.1587C>T (p.Leu529=) c.1659C>T (p.Leu553=) n.826C>T c.1770C>T (p.Leu590=) c.837C>T (p.Leu279=) | |
| X | g.55009246G>C | CA10428237 | ALAS2 | c.1698C>G (p.Leu566=) c.1587C>G (p.Leu529=) c.1659C>G (p.Leu553=) n.826C>G c.1770C>G (p.Leu590=) c.837C>G (p.Leu279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55009246G= | CA2430388719 | ALAS2 | c.1698C= (p.Leu566=) c.1587C= (p.Leu529=) c.1659C= (p.Leu553=) n.826C= c.1770C= (p.Leu590=) c.837C= (p.Leu279=) | |
| X | g.55009246G>T | CA516580832 | ALAS2 | c.1698C>A (p.Leu566=) c.1587C>A (p.Leu529=) c.1659C>A (p.Leu553=) n.826C>A c.1770C>A (p.Leu590=) c.837C>A (p.Leu279=) | |
| X | g.55009247A>C | CA413290331 | ALAS2 | c.1697T>G (p.Leu566Arg) c.1586T>G (p.Leu529Arg) c.1658T>G (p.Leu553Arg) n.825T>G c.1769T>G (p.Leu590Arg) c.836T>G (p.Leu279Arg) | |
| X | g.55009247A>G | CA413290333 | ALAS2 | c.1697T>C (p.Leu566Pro) c.1586T>C (p.Leu529Pro) c.1658T>C (p.Leu553Pro) n.825T>C c.1769T>C (p.Leu590Pro) c.836T>C (p.Leu279Pro) | |
| X | g.55009247A>T | CA413290329 | ALAS2 | c.1697T>A (p.Leu566His) c.1586T>A (p.Leu529His) c.1658T>A (p.Leu553His) n.825T>A c.1769T>A (p.Leu590His) c.836T>A (p.Leu279His) | |
| X | g.55009248G>A | CA413290335 | ALAS2 | c.1696C>T (p.Leu566Phe) c.1585C>T (p.Leu529Phe) c.1657C>T (p.Leu553Phe) n.824C>T c.1768C>T (p.Leu590Phe) c.835C>T (p.Leu279Phe) | ClinVar dbSNP |
| X | g.55009248G>C | CA413290337 | ALAS2 | c.1696C>G (p.Leu566Val) c.1585C>G (p.Leu529Val) c.1657C>G (p.Leu553Val) n.824C>G c.1768C>G (p.Leu590Val) c.835C>G (p.Leu279Val) | |
| X | g.55009248G= | CA2430388720 | ALAS2 | c.1696C= (p.Leu566=) c.1585C= (p.Leu529=) c.1657C= (p.Leu553=) n.824C= c.1768C= (p.Leu590=) c.835C= (p.Leu279=) | |
| X | g.55009248G>T | CA413290339 | ALAS2 | c.1696C>A (p.Leu566Ile) c.1585C>A (p.Leu529Ile) c.1657C>A (p.Leu553Ile) n.824C>A c.1768C>A (p.Leu590Ile) c.835C>A (p.Leu279Ile) | |
| X | g.55009249C>A | CA413290341 | ALAS2 | c.1695G>T (p.Glu565Asp) c.1584G>T (p.Glu528Asp) c.1656G>T (p.Glu552Asp) n.823G>T c.1767G>T (p.Glu589Asp) c.834G>T (p.Glu278Asp) | gnomAD v4 |
| X | g.55009249C= | CA2430388721 | ALAS2 | c.1695G= (p.Glu565=) c.1584G= (p.Glu528=) c.1656G= (p.Glu552=) n.823G= c.1767G= (p.Glu589=) c.834G= (p.Glu278=) | |
| X | g.55009249C>G | CA328967863 | ALAS2 | c.1695G>C (p.Glu565Asp) c.1584G>C (p.Glu528Asp) c.1656G>C (p.Glu552Asp) n.823G>C c.1767G>C (p.Glu589Asp) c.834G>C (p.Glu278Asp) | ClinVar dbSNP |
| X | g.55009249C>T | CA516580839 | ALAS2 | c.1695G>A (p.Glu565=) c.1584G>A (p.Glu528=) c.1656G>A (p.Glu552=) n.823G>A c.1767G>A (p.Glu589=) c.834G>A (p.Glu278=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55009250T>A | CA413290345 | ALAS2 | c.1694A>T (p.Glu565Val) c.1583A>T (p.Glu528Val) c.1655A>T (p.Glu552Val) n.822A>T c.1766A>T (p.Glu589Val) c.833A>T (p.Glu278Val) | |
| X | g.55009250T>C | CA413290346 | ALAS2 | c.1694A>G (p.Glu565Gly) c.1583A>G (p.Glu528Gly) c.1655A>G (p.Glu552Gly) n.822A>G c.1766A>G (p.Glu589Gly) c.833A>G (p.Glu278Gly) | |
| X | g.55009250T>G | CA413290348 | ALAS2 | c.1694A>C (p.Glu565Ala) c.1583A>C (p.Glu528Ala) c.1655A>C (p.Glu552Ala) n.822A>C c.1766A>C (p.Glu589Ala) c.833A>C (p.Glu278Ala) | |
| X | g.55009251C>A | CA413290350 | ALAS2 | c.1693G>T (p.Glu565Ter) c.1582G>T (p.Glu528Ter) c.1654G>T (p.Glu552Ter) n.821G>T c.1765G>T (p.Glu589Ter) c.832G>T (p.Glu278Ter) | |
| X | g.55009251C= | CA2430388722 | ALAS2 | c.1693G= (p.Glu565=) c.1582G= (p.Glu528=) c.1654G= (p.Glu552=) n.821G= c.1765G= (p.Glu589=) c.832G= (p.Glu278=) | |
| X | g.55009251C>G | CA16608960 | ALAS2 | c.1693G>C (p.Glu565Gln) c.1582G>C (p.Glu528Gln) c.1654G>C (p.Glu552Gln) n.821G>C c.1765G>C (p.Glu589Gln) c.832G>C (p.Glu278Gln) | ClinVar dbSNP |
| X | g.55009251C>T | CA413290352 | ALAS2 | c.1693G>A (p.Glu565Lys) c.1582G>A (p.Glu528Lys) c.1654G>A (p.Glu552Lys) n.821G>A c.1765G>A (p.Glu589Lys) c.832G>A (p.Glu278Lys) | |
| X | g.55009252A>C | CA413290355 | ALAS2 | c.1692T>G (p.Phe564Leu) c.1581T>G (p.Phe527Leu) c.1653T>G (p.Phe551Leu) n.820T>G c.1764T>G (p.Phe588Leu) c.831T>G (p.Phe277Leu) | |
| X | g.55009252A>G | CA516580843 | ALAS2 | c.1692T>C (p.Phe564=) c.1581T>C (p.Phe527=) c.1653T>C (p.Phe551=) n.820T>C c.1764T>C (p.Phe588=) c.831T>C (p.Phe277=) | |
| X | g.55009252A>T | CA413290357 | ALAS2 | c.1692T>A (p.Phe564Leu) c.1581T>A (p.Phe527Leu) c.1653T>A (p.Phe551Leu) n.820T>A c.1764T>A (p.Phe588Leu) c.831T>A (p.Phe277Leu) | |
| X | g.55009254dup | CA2693863843 | ALAS2 | c.1692dup (p.Glu565Ter) c.1581dup (p.Glu528Ter) c.1653dup (p.Glu552Ter) n.820dup c.1764dup (p.Glu589Ter) c.831dup (p.Glu278Ter) | gnomAD v4 |
| X | g.55009253_55009254del | CA2693863844 | ALAS2 | c.1691_1692del (p.Phe564Ter) c.1580_1581del (p.Phe527Ter) c.1652_1653del (p.Phe551Ter) n.819_820del c.1763_1764del (p.Phe588Ter) c.830_831del (p.Phe277Ter) | gnomAD v4 |
| X | g.55009253A>C | CA413290362 | ALAS2 | c.1691T>G (p.Phe564Cys) c.1580T>G (p.Phe527Cys) c.1652T>G (p.Phe551Cys) n.819T>G c.1763T>G (p.Phe588Cys) c.830T>G (p.Phe277Cys) | |
| X | g.55009253A>G | CA413290359 | ALAS2 | c.1691T>C (p.Phe564Ser) c.1580T>C (p.Phe527Ser) c.1652T>C (p.Phe551Ser) n.819T>C c.1763T>C (p.Phe588Ser) c.830T>C (p.Phe277Ser) | |
| X | g.55009253A>T | CA413290360 | ALAS2 | c.1691T>A (p.Phe564Tyr) c.1580T>A (p.Phe527Tyr) c.1652T>A (p.Phe551Tyr) n.819T>A c.1763T>A (p.Phe588Tyr) c.830T>A (p.Phe277Tyr) | |
| X | g.55009254A= | CA2430388723 | ALAS2 | c.1690T= (p.Phe564=) c.1579T= (p.Phe527=) c.1651T= (p.Phe551=) n.818T= c.1762T= (p.Phe588=) c.829T= (p.Phe277=) | |
| X | g.55009254A>C | CA413290365 | ALAS2 | c.1690T>G (p.Phe564Val) c.1579T>G (p.Phe527Val) c.1651T>G (p.Phe551Val) n.818T>G c.1762T>G (p.Phe588Val) c.829T>G (p.Phe277Val) | |
| X | g.55009254A>G | CA413290366 | ALAS2 | c.1690T>C (p.Phe564Leu) c.1579T>C (p.Phe527Leu) c.1651T>C (p.Phe551Leu) n.818T>C c.1762T>C (p.Phe588Leu) c.829T>C (p.Phe277Leu) |