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 |
|---|---|---|---|---|---|
| 15 | g.27926167_27926174delinsCTA | CA2695197228 | OCA2 | c.2032_2039delinsTAG (p.Glu678Ter) c.1960_1967delinsTAG (p.Glu654Ter) c.2056_2063delinsTAG (p.Glu686Ter) c.1984_1991delinsTAG (p.Glu662Ter) c.1918_1925delinsTAG (p.Glu640Ter) c.1861_1868delinsTAG (p.Glu621Ter) | ClinVar |
| 15 | g.27926173T>A | CA391361092 | OCA2 | c.2033A>T (p.Glu678Val) c.1961A>T (p.Glu654Val) c.2057A>T (p.Glu686Val) c.1985A>T (p.Glu662Val) c.1919A>T (p.Glu640Val) c.1862A>T (p.Glu621Val) | |
| 15 | g.27926173T>C | CA391361097 | OCA2 | c.2033A>G (p.Glu678Gly) c.1961A>G (p.Glu654Gly) c.2057A>G (p.Glu686Gly) c.1985A>G (p.Glu662Gly) c.1919A>G (p.Glu640Gly) c.1862A>G (p.Glu621Gly) | |
| 15 | g.27926173T>G | CA391361098 | OCA2 | c.2033A>C (p.Glu678Ala) c.1961A>C (p.Glu654Ala) c.2057A>C (p.Glu686Ala) c.1985A>C (p.Glu662Ala) c.1919A>C (p.Glu640Ala) c.1862A>C (p.Glu621Ala) | |
| 15 | g.27926174C>A | CA391361105 | OCA2 | c.2032G>T (p.Glu678Ter) c.1960G>T (p.Glu654Ter) c.2056G>T (p.Glu686Ter) c.1984G>T (p.Glu662Ter) c.1918G>T (p.Glu640Ter) c.1861G>T (p.Glu621Ter) | |
| 15 | g.27926174C= | CA2166365072 | OCA2 | c.2032G= (p.Glu678=) c.1960G= (p.Glu654=) c.2056G= (p.Glu686=) c.1984G= (p.Glu662=) c.1918G= (p.Glu640=) c.1861G= (p.Glu621=) | |
| 15 | g.27926174C>G | CA391361103 | OCA2 | c.2032G>C (p.Glu678Gln) c.1960G>C (p.Glu654Gln) c.2056G>C (p.Glu686Gln) c.1984G>C (p.Glu662Gln) c.1918G>C (p.Glu640Gln) c.1861G>C (p.Glu621Gln) | |
| 15 | g.27926174C>T | CA391361101 | OCA2 | c.2032G>A (p.Glu678Lys) c.1960G>A (p.Glu654Lys) c.2056G>A (p.Glu686Lys) c.1984G>A (p.Glu662Lys) c.1918G>A (p.Glu640Lys) c.1861G>A (p.Glu621Lys) | dbSNP gnomAD v4 |
| 15 | g.27926175C>A | CA488959276 | OCA2 | c.2031G>T (p.Val677=) c.1959G>T (p.Val653=) c.2055G>T (p.Val685=) c.1983G>T (p.Val661=) c.1917G>T (p.Val639=) c.1860G>T (p.Val620=) | |
| 15 | g.27926175C= | CA2166365073 | OCA2 | c.2031G= (p.Val677=) c.1959G= (p.Val653=) c.2055G= (p.Val685=) c.1983G= (p.Val661=) c.1917G= (p.Val639=) c.1860G= (p.Val620=) | |
| 15 | g.27926175C>G | CA488959277 | OCA2 | c.2031G>C (p.Val677=) c.1959G>C (p.Val653=) c.2055G>C (p.Val685=) c.1983G>C (p.Val661=) c.1917G>C (p.Val639=) c.1860G>C (p.Val620=) | |
| 15 | g.27926175C>T | CA488959278 | OCA2 | c.2031G>A (p.Val677=) c.1959G>A (p.Val653=) c.2055G>A (p.Val685=) c.1983G>A (p.Val661=) c.1917G>A (p.Val639=) c.1860G>A (p.Val620=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926176A>C | CA391361108 | OCA2 | c.2030T>G (p.Val677Gly) c.1958T>G (p.Val653Gly) c.2054T>G (p.Val685Gly) c.1982T>G (p.Val661Gly) c.1916T>G (p.Val639Gly) c.1859T>G (p.Val620Gly) | |
| 15 | g.27926176A>G | CA391361109 | OCA2 | c.2030T>C (p.Val677Ala) c.1958T>C (p.Val653Ala) c.2054T>C (p.Val685Ala) c.1982T>C (p.Val661Ala) c.1916T>C (p.Val639Ala) c.1859T>C (p.Val620Ala) | ClinVar dbSNP gnomAD v4 |
| 15 | g.27926176A>T | CA391361110 | OCA2 | c.2030T>A (p.Val677Glu) c.1958T>A (p.Val653Glu) c.2054T>A (p.Val685Glu) c.1982T>A (p.Val661Glu) c.1916T>A (p.Val639Glu) c.1859T>A (p.Val620Glu) | |
| 15 | g.27926177C>A | CA391361113 | OCA2 | c.2029G>T (p.Val677Leu) c.1957G>T (p.Val653Leu) c.2053G>T (p.Val685Leu) c.1981G>T (p.Val661Leu) c.1915G>T (p.Val639Leu) c.1858G>T (p.Val620Leu) | |
| 15 | g.27926177C= | CA2166365074 | OCA2 | c.2029G= (p.Val677=) c.1957G= (p.Val653=) c.2053G= (p.Val685=) c.1981G= (p.Val661=) c.1915G= (p.Val639=) c.1858G= (p.Val620=) | |
| 15 | g.27926177C>G | CA391361115 | OCA2 | c.2029G>C (p.Val677Leu) c.1957G>C (p.Val653Leu) c.2053G>C (p.Val685Leu) c.1981G>C (p.Val661Leu) c.1915G>C (p.Val639Leu) c.1858G>C (p.Val620Leu) | |
| 15 | g.27926177C>T | CA391361117 | OCA2 | c.2029G>A (p.Val677Met) c.1957G>A (p.Val653Met) c.2053G>A (p.Val685Met) c.1981G>A (p.Val661Met) c.1915G>A (p.Val639Met) c.1858G>A (p.Val620Met) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926178T>A | CA391361120 | OCA2 | c.2028A>T (p.Arg676Ser) c.1956A>T (p.Arg652Ser) c.2052A>T (p.Arg684Ser) c.1980A>T (p.Arg660Ser) c.1914A>T (p.Arg638Ser) c.1857A>T (p.Arg619Ser) | |
| 15 | g.27926178T>C | CA488959279 | OCA2 | c.2028A>G (p.Arg676=) c.1956A>G (p.Arg652=) c.2052A>G (p.Arg684=) c.1980A>G (p.Arg660=) c.1914A>G (p.Arg638=) c.1857A>G (p.Arg619=) | |
| 15 | g.27926178T>G | CA391361121 | OCA2 | c.2028A>C (p.Arg676Ser) c.1956A>C (p.Arg652Ser) c.2052A>C (p.Arg684Ser) c.1980A>C (p.Arg660Ser) c.1914A>C (p.Arg638Ser) c.1857A>C (p.Arg619Ser) | |
| 15 | g.27926178_27926179delinsTC | CA2166365075 | OCA2 | c.2027_2028delinsGA (p.Arg676=) c.1955_1956delinsGA (p.Arg652=) c.2051_2052delinsGA (p.Arg684=) c.1979_1980delinsGA (p.Arg660=) c.1913_1914delinsGA (p.Arg638=) c.1856_1857delinsGA (p.Arg619=) | |
| 15 | g.27926179del | CA616704970 | OCA2 | c.2027del (p.Arg676LysfsTer16) c.1955del (p.Arg652LysfsTer16) c.2051del (p.Arg684LysfsTer16) c.1979del (p.Arg660LysfsTer16) c.1913del (p.Arg638LysfsTer16) c.1856del (p.Arg619LysfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926179C>A | CA391361124 | OCA2 | c.2027G>T (p.Arg676Ile) c.1955G>T (p.Arg652Ile) c.2051G>T (p.Arg684Ile) c.1979G>T (p.Arg660Ile) c.1913G>T (p.Arg638Ile) c.1856G>T (p.Arg619Ile) | gnomAD v4 |
| 15 | g.27926179C>G | CA391361125 | OCA2 | c.2027G>C (p.Arg676Thr) c.1955G>C (p.Arg652Thr) c.2051G>C (p.Arg684Thr) c.1979G>C (p.Arg660Thr) c.1913G>C (p.Arg638Thr) c.1856G>C (p.Arg619Thr) | |
| 15 | g.27926179C>T | CA391361126 | OCA2 | c.2027G>A (p.Arg676Lys) c.1955G>A (p.Arg652Lys) c.2051G>A (p.Arg684Lys) c.1979G>A (p.Arg660Lys) c.1913G>A (p.Arg638Lys) c.1856G>A (p.Arg619Lys) | |
| 15 | g.27926180T>A | CA391361128 | OCA2 | c.2026A>T (p.Arg676Ter) c.1954A>T (p.Arg652Ter) c.2050A>T (p.Arg684Ter) c.1978A>T (p.Arg660Ter) c.1912A>T (p.Arg638Ter) c.1855A>T (p.Arg619Ter) | |
| 15 | g.27926180T>C | CA391361130 | OCA2 | c.2026A>G (p.Arg676Gly) c.1954A>G (p.Arg652Gly) c.2050A>G (p.Arg684Gly) c.1978A>G (p.Arg660Gly) c.1912A>G (p.Arg638Gly) c.1855A>G (p.Arg619Gly) | gnomAD v4 COSMIC |
| 15 | g.27926180T>G | CA488959280 | OCA2 | c.2026A>C (p.Arg676=) c.1954A>C (p.Arg652=) c.2050A>C (p.Arg684=) c.1978A>C (p.Arg660=) c.1912A>C (p.Arg638=) c.1855A>C (p.Arg619=) | |
| 15 | g.27926181G>A | CA488959281 | OCA2 | c.2025C>T (p.His675=) c.1953C>T (p.His651=) c.2049C>T (p.His683=) c.1977C>T (p.His659=) c.1911C>T (p.His637=) c.1854C>T (p.His618=) | |
| 15 | g.27926181G>C | CA391361133 | OCA2 | c.2025C>G (p.His675Gln) c.1953C>G (p.His651Gln) c.2049C>G (p.His683Gln) c.1977C>G (p.His659Gln) c.1911C>G (p.His637Gln) c.1854C>G (p.His618Gln) | |
| 15 | g.27926181G>T | CA391361131 | OCA2 | c.2025C>A (p.His675Gln) c.1953C>A (p.His651Gln) c.2049C>A (p.His683Gln) c.1977C>A (p.His659Gln) c.1911C>A (p.His637Gln) c.1854C>A (p.His618Gln) | |
| 15 | g.27926182T>A | CA391361135 | OCA2 | c.2024A>T (p.His675Leu) c.1952A>T (p.His651Leu) c.2048A>T (p.His683Leu) c.1976A>T (p.His659Leu) c.1910A>T (p.His637Leu) c.1853A>T (p.His618Leu) | |
| 15 | g.27926182T>C | CA391361138 | OCA2 | c.2024A>G (p.His675Arg) c.1952A>G (p.His651Arg) c.2048A>G (p.His683Arg) c.1976A>G (p.His659Arg) c.1910A>G (p.His637Arg) c.1853A>G (p.His618Arg) | |
| 15 | g.27926182T>G | CA391361136 | OCA2 | c.2024A>C (p.His675Pro) c.1952A>C (p.His651Pro) c.2048A>C (p.His683Pro) c.1976A>C (p.His659Pro) c.1910A>C (p.His637Pro) c.1853A>C (p.His618Pro) | |
| 15 | g.27926183G>A | CA391361140 | OCA2 | c.2023C>T (p.His675Tyr) c.1951C>T (p.His651Tyr) c.2047C>T (p.His683Tyr) c.1975C>T (p.His659Tyr) c.1909C>T (p.His637Tyr) c.1852C>T (p.His618Tyr) | gnomAD v4 |
| 15 | g.27926183G>C | CA391361143 | OCA2 | c.2023C>G (p.His675Asp) c.1951C>G (p.His651Asp) c.2047C>G (p.His683Asp) c.1975C>G (p.His659Asp) c.1909C>G (p.His637Asp) c.1852C>G (p.His618Asp) | |
| 15 | g.27926183G>T | CA391361142 | OCA2 | c.2023C>A (p.His675Asn) c.1951C>A (p.His651Asn) c.2047C>A (p.His683Asn) c.1975C>A (p.His659Asn) c.1909C>A (p.His637Asn) c.1852C>A (p.His618Asn) | |
| 15 | g.27926184T>A | CA488959282 | OCA2 | c.2022A>T (p.Leu674=) c.1950A>T (p.Leu650=) c.2046A>T (p.Leu682=) c.1974A>T (p.Leu658=) c.1908A>T (p.Leu636=) c.1851A>T (p.Leu617=) | |
| 15 | g.27926184T>C | CA7438792 | OCA2 | c.2022A>G (p.Leu674=) c.1950A>G (p.Leu650=) c.2046A>G (p.Leu682=) c.1974A>G (p.Leu658=) c.1908A>G (p.Leu636=) c.1851A>G (p.Leu617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926184T>G | CA488959283 | OCA2 | c.2022A>C (p.Leu674=) c.1950A>C (p.Leu650=) c.2046A>C (p.Leu682=) c.1974A>C (p.Leu658=) c.1908A>C (p.Leu636=) c.1851A>C (p.Leu617=) | |
| 15 | g.27926184T= | CA2166365076 | OCA2 | c.2022A= (p.Leu674=) c.1950A= (p.Leu650=) c.2046A= (p.Leu682=) c.1974A= (p.Leu658=) c.1908A= (p.Leu636=) c.1851A= (p.Leu617=) | |
| 15 | g.27926185A>C | CA391361152 | OCA2 | c.2021T>G (p.Leu674Arg) c.1949T>G (p.Leu650Arg) c.2045T>G (p.Leu682Arg) c.1973T>G (p.Leu658Arg) c.1907T>G (p.Leu636Arg) c.1850T>G (p.Leu617Arg) | |
| 15 | g.27926185A>G | CA391361148 | OCA2 | c.2021T>C (p.Leu674Pro) c.1949T>C (p.Leu650Pro) c.2045T>C (p.Leu682Pro) c.1973T>C (p.Leu658Pro) c.1907T>C (p.Leu636Pro) c.1850T>C (p.Leu617Pro) | |
| 15 | g.27926185A>T | CA391361150 | OCA2 | c.2021T>A (p.Leu674Gln) c.1949T>A (p.Leu650Gln) c.2045T>A (p.Leu682Gln) c.1973T>A (p.Leu658Gln) c.1907T>A (p.Leu636Gln) c.1850T>A (p.Leu617Gln) | gnomAD v4 |
| 15 | g.27926185dup | CA2166365077 | OCA2 | c.2021dup (p.His675ThrfsTer?) c.1949dup (p.His651ThrfsTer?) c.2045dup (p.His683ThrfsTer?) c.1973dup (p.His659ThrfsTer?) c.1907dup (p.His637ThrfsTer?) c.1850dup (p.His618ThrfsTer?) | dbSNP |
| 15 | g.27926186G>A | CA488959284 | OCA2 | c.2020C>T (p.Leu674=) c.1948C>T (p.Leu650=) c.2044C>T (p.Leu682=) c.1972C>T (p.Leu658=) c.1906C>T (p.Leu636=) c.1849C>T (p.Leu617=) | |
| 15 | g.27926186G>C | CA241133 | OCA2 | c.2020C>G (p.Leu674Val) c.1948C>G (p.Leu650Val) c.2044C>G (p.Leu682Val) c.1972C>G (p.Leu658Val) c.1906C>G (p.Leu636Val) c.1849C>G (p.Leu617Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926186G= | CA2166365078 | OCA2 | c.2020C= (p.Leu674=) c.1948C= (p.Leu650=) c.2044C= (p.Leu682=) c.1972C= (p.Leu658=) c.1906C= (p.Leu636=) c.1849C= (p.Leu617=) |