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 |
|---|---|---|---|---|---|
| 1 | g.237492973C>A | CA345389264 | RYR2 | c.1847C>A (p.Ser616Ter) c.1799C>A (p.Ser600Ter) n.2128C>A c.1826C>A (p.Ser609Ter) n.2161C>A | |
| 1 | g.237492973C= | CA1148225070 | RYR2 | c.1847C= (p.Ser616=) c.1799C= (p.Ser600=) n.2128C= c.1826C= (p.Ser609=) n.2161C= | |
| 1 | g.237492973C>G | CA345389265 | RYR2 | c.1847C>G (p.Ser616Ter) c.1799C>G (p.Ser600Ter) n.2128C>G c.1826C>G (p.Ser609Ter) n.2161C>G | |
| 1 | g.237492973C>T | CA008618 | RYR2 | c.1847C>T (p.Ser616Leu) c.1799C>T (p.Ser600Leu) n.2128C>T c.1826C>T (p.Ser609Leu) n.2161C>T | ClinVar dbSNP |
| 1 | g.237492974A>C | CA423817078 | RYR2 | c.1848A>C (p.Ser616=) c.1800A>C (p.Ser600=) n.2129A>C c.1827A>C (p.Ser609=) n.2162A>C | ClinVar |
| 1 | g.237492974A>G | CA423817079 | RYR2 | c.1848A>G (p.Ser616=) c.1800A>G (p.Ser600=) n.2129A>G c.1827A>G (p.Ser609=) n.2162A>G | gnomAD v4 COSMIC COSMIC |
| 1 | g.237492974A>T | CA423817080 | RYR2 | c.1848A>T (p.Ser616=) c.1800A>T (p.Ser600=) n.2129A>T c.1827A>T (p.Ser609=) n.2162A>T | |
| 1 | g.237492975C>A | CA345389271 | RYR2 | c.1849C>A (p.Leu617Ile) c.1801C>A (p.Leu601Ile) n.2130C>A c.1828C>A (p.Leu610Ile) n.2163C>A | dbSNP |
| 1 | g.237492975C= | CA2487359777 | RYR2 | c.1849C= (p.Leu617=) c.1801C= (p.Leu601=) n.2130C= c.1828C= (p.Leu610=) n.2163C= | |
| 1 | g.237492975C>G | CA345389274 | RYR2 | c.1849C>G (p.Leu617Val) c.1801C>G (p.Leu601Val) n.2130C>G c.1828C>G (p.Leu610Val) n.2163C>G | |
| 1 | g.237492975C>T | CA345389277 | RYR2 | c.1849C>T (p.Leu617Phe) c.1801C>T (p.Leu601Phe) n.2130C>T c.1828C>T (p.Leu610Phe) n.2163C>T | |
| 1 | g.237492976T>A | CA345389280 | RYR2 | c.1850T>A (p.Leu617His) c.1802T>A (p.Leu601His) n.2131T>A c.1829T>A (p.Leu610His) n.2164T>A | |
| 1 | g.237492976T>C | CA085904 | RYR2 | c.1850T>C (p.Leu617Pro) c.1802T>C (p.Leu601Pro) n.2131T>C c.1829T>C (p.Leu610Pro) n.2164T>C | dbSNP ExAC gnomAD v2 |
| 1 | g.237492976T>G | CA345389283 | RYR2 | c.1850T>G (p.Leu617Arg) c.1802T>G (p.Leu601Arg) n.2131T>G c.1829T>G (p.Leu610Arg) n.2164T>G | |
| 1 | g.237492976T= | CA2487359778 | RYR2 | c.1850T= (p.Leu617=) c.1802T= (p.Leu601=) n.2131T= c.1829T= (p.Leu610=) n.2164T= | |
| 1 | g.237492977C>A | CA423817081 | RYR2 | c.1851C>A (p.Leu617=) c.1803C>A (p.Leu601=) n.2132C>A c.1830C>A (p.Leu610=) n.2165C>A | |
| 1 | g.237492977C>G | CA423817082 | RYR2 | c.1851C>G (p.Leu617=) c.1803C>G (p.Leu601=) n.2132C>G c.1830C>G (p.Leu610=) n.2165C>G | gnomAD v4 |
| 1 | g.237492977C>T | CA423817083 | RYR2 | c.1851C>T (p.Leu617=) c.1803C>T (p.Leu601=) n.2132C>T c.1830C>T (p.Leu610=) n.2165C>T | ClinVar gnomAD v4 |
| 1 | g.237492978T>A | CA345389293 | RYR2 | c.1852T>A (p.Cys618Ser) c.1804T>A (p.Cys602Ser) n.2133T>A c.1831T>A (p.Cys611Ser) n.2166T>A | |
| 1 | g.237492978T>C | CA345389287 | RYR2 | c.1852T>C (p.Cys618Arg) c.1804T>C (p.Cys602Arg) n.2133T>C c.1831T>C (p.Cys611Arg) n.2166T>C | |
| 1 | g.237492978T>G | CA345389291 | RYR2 | c.1852T>G (p.Cys618Gly) c.1804T>G (p.Cys602Gly) n.2133T>G c.1831T>G (p.Cys611Gly) n.2166T>G | |
| 1 | g.237492979G>A | CA345389295 | RYR2 | c.1853G>A (p.Cys618Tyr) c.1805G>A (p.Cys602Tyr) n.2134G>A c.1832G>A (p.Cys611Tyr) n.2167G>A | |
| 1 | g.237492979G>C | CA345389298 | RYR2 | c.1853G>C (p.Cys618Ser) c.1805G>C (p.Cys602Ser) n.2134G>C c.1832G>C (p.Cys611Ser) n.2167G>C | |
| 1 | g.237492979G>T | CA345389303 | RYR2 | c.1853G>T (p.Cys618Phe) c.1805G>T (p.Cys602Phe) n.2134G>T c.1832G>T (p.Cys611Phe) n.2167G>T | ClinVar |
| 1 | g.237492980T>A | CA345389307 | RYR2 | c.1854T>A (p.Cys618Ter) c.1806T>A (p.Cys602Ter) n.2135T>A c.1833T>A (p.Cys611Ter) n.2168T>A | |
| 1 | g.237492980T>C | CA423817084 | RYR2 | c.1854T>C (p.Cys618=) c.1806T>C (p.Cys602=) n.2135T>C c.1833T>C (p.Cys611=) n.2168T>C | |
| 1 | g.237492980T>G | CA345389311 | RYR2 | c.1854T>G (p.Cys618Trp) c.1806T>G (p.Cys602Trp) n.2135T>G c.1833T>G (p.Cys611Trp) n.2168T>G | |
| 1 | g.237492980dup | CA2574465301 | RYR2 | c.1854dup (p.Val619CysfsTer10) c.1806dup (p.Val603CysfsTer10) n.2135dup c.1833dup (p.Val612CysfsTer10) n.2168dup | |
| 1 | g.237492981G>A | CA345389317 | RYR2 | c.1855G>A (p.Val619Ile) c.1807G>A (p.Val603Ile) n.2136G>A c.1834G>A (p.Val612Ile) n.2169G>A | |
| 1 | g.237492981G>C | CA345389319 | RYR2 | c.1855G>C (p.Val619Leu) c.1807G>C (p.Val603Leu) n.2136G>C c.1834G>C (p.Val612Leu) n.2169G>C | |
| 1 | g.237492981G>T | CA345389326 | RYR2 | c.1855G>T (p.Val619Phe) c.1807G>T (p.Val603Phe) n.2136G>T c.1834G>T (p.Val612Phe) n.2169G>T | |
| 1 | g.237492982T>A | CA345389328 | RYR2 | c.1856T>A (p.Val619Asp) c.1808T>A (p.Val603Asp) n.2137T>A c.1835T>A (p.Val612Asp) n.2170T>A | |
| 1 | g.237492982T>C | CA345389330 | RYR2 | c.1856T>C (p.Val619Ala) c.1808T>C (p.Val603Ala) n.2137T>C c.1835T>C (p.Val612Ala) n.2170T>C | |
| 1 | g.237492982T>G | CA345389332 | RYR2 | c.1856T>G (p.Val619Gly) c.1808T>G (p.Val603Gly) n.2137T>G c.1835T>G (p.Val612Gly) n.2170T>G | |
| 1 | g.237492983T>A | CA423817085 | RYR2 | c.1857T>A (p.Val619=) c.1809T>A (p.Val603=) n.2138T>A c.1836T>A (p.Val612=) n.2171T>A | |
| 1 | g.237492983T>C | CA423817086 | RYR2 | c.1857T>C (p.Val619=) c.1809T>C (p.Val603=) n.2138T>C c.1836T>C (p.Val612=) n.2171T>C | |
| 1 | g.237492983T>G | CA423817087 | RYR2 | c.1857T>G (p.Val619=) c.1809T>G (p.Val603=) n.2138T>G c.1836T>G (p.Val612=) n.2171T>G | |
| 1 | g.237492984T>A | CA345389339 | RYR2 | c.1858T>A (p.Cys620Ser) c.1810T>A (p.Cys604Ser) n.2139T>A c.1837T>A (p.Cys613Ser) n.2172T>A | |
| 1 | g.237492984T>C | CA345389337 | RYR2 | c.1858T>C (p.Cys620Arg) c.1810T>C (p.Cys604Arg) n.2139T>C c.1837T>C (p.Cys613Arg) n.2172T>C | |
| 1 | g.237492984T>G | CA345389335 | RYR2 | c.1858T>G (p.Cys620Gly) c.1810T>G (p.Cys604Gly) n.2139T>G c.1837T>G (p.Cys613Gly) n.2172T>G | |
| 1 | g.237492985G>A | CA345389343 | RYR2 | c.1859G>A (p.Cys620Tyr) c.1811G>A (p.Cys604Tyr) n.2140G>A c.1838G>A (p.Cys613Tyr) n.2173G>A | gnomAD v4 |
| 1 | g.237492985G>C | CA345389345 | RYR2 | c.1859G>C (p.Cys620Ser) c.1811G>C (p.Cys604Ser) n.2140G>C c.1838G>C (p.Cys613Ser) n.2173G>C | |
| 1 | g.237492985G>T | CA345389346 | RYR2 | c.1859G>T (p.Cys620Phe) c.1811G>T (p.Cys604Phe) n.2140G>T c.1838G>T (p.Cys613Phe) n.2173G>T | gnomAD v4 |
| 1 | g.237492986C>A | CA069216 | RYR2 | c.1860C>A (p.Cys620Ter) c.1812C>A (p.Cys604Ter) n.2141C>A c.1839C>A (p.Cys613Ter) n.2174C>A | |
| 1 | g.237492986C>G | CA345389347 | RYR2 | c.1860C>G (p.Cys620Trp) c.1812C>G (p.Cys604Trp) n.2141C>G c.1839C>G (p.Cys613Trp) n.2174C>G | |
| 1 | g.237492986C>T | CA423817088 | RYR2 | c.1860C>T (p.Cys620=) c.1812C>T (p.Cys604=) n.2141C>T c.1839C>T (p.Cys613=) n.2174C>T | gnomAD v4 |
| 1 | g.237492987C>A | CA345389348 | RYR2 | c.1861C>A (p.His621Asn) c.1813C>A (p.His605Asn) n.2142C>A c.1840C>A (p.His614Asn) n.2175C>A | |
| 1 | g.237492987C>G | CA345389349 | RYR2 | c.1861C>G (p.His621Asp) c.1813C>G (p.His605Asp) n.2142C>G c.1840C>G (p.His614Asp) n.2175C>G | |
| 1 | g.237492987C>T | CA345389350 | RYR2 | c.1861C>T (p.His621Tyr) c.1813C>T (p.His605Tyr) n.2142C>T c.1840C>T (p.His614Tyr) n.2175C>T | |
| 1 | g.237492988A>C | CA345389354 | RYR2 | c.1862A>C (p.His621Pro) c.1814A>C (p.His605Pro) n.2143A>C c.1841A>C (p.His614Pro) n.2176A>C |