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.27926168C>A | CA391361068 | OCA2 | c.2038G>T (p.Ala680Ser) c.1966G>T (p.Ala656Ser) c.2062G>T (p.Ala688Ser) c.1990G>T (p.Ala664Ser) c.1924G>T (p.Ala642Ser) c.1867G>T (p.Ala623Ser) | |
| 15 | g.27926168C>G | CA391361070 | OCA2 | c.2038G>C (p.Ala680Pro) c.1966G>C (p.Ala656Pro) c.2062G>C (p.Ala688Pro) c.1990G>C (p.Ala664Pro) c.1924G>C (p.Ala642Pro) c.1867G>C (p.Ala623Pro) | |
| 15 | g.27926168C>T | CA391361071 | OCA2 | c.2038G>A (p.Ala680Thr) c.1966G>A (p.Ala656Thr) c.2062G>A (p.Ala688Thr) c.1990G>A (p.Ala664Thr) c.1924G>A (p.Ala642Thr) c.1867G>A (p.Ala623Thr) | |
| 15 | g.27926170del | CA2627379631 | OCA2 | c.2038del (p.Ala680GlnfsTer12) c.1966del (p.Ala656GlnfsTer12) c.2062del (p.Ala688GlnfsTer12) c.1990del (p.Ala664GlnfsTer12) c.1924del (p.Ala642GlnfsTer12) c.1867del (p.Ala623GlnfsTer12) | gnomAD v4 |
| 15 | g.27926169C>A | CA391361073 | OCA2 | c.2037G>T (p.Trp679Cys) c.1965G>T (p.Trp655Cys) c.2061G>T (p.Trp687Cys) c.1989G>T (p.Trp663Cys) c.1923G>T (p.Trp641Cys) c.1866G>T (p.Trp622Cys) | dbSNP |
| 15 | g.27926169C= | CA2166365069 | OCA2 | c.2037G= (p.Trp679=) c.1965G= (p.Trp655=) c.2061G= (p.Trp687=) c.1989G= (p.Trp663=) c.1923G= (p.Trp641=) c.1866G= (p.Trp622=) | |
| 15 | g.27926169C>G | CA251639 | OCA2 | c.2037G>C (p.Trp679Cys) c.1965G>C (p.Trp655Cys) c.2061G>C (p.Trp687Cys) c.1989G>C (p.Trp663Cys) c.1923G>C (p.Trp641Cys) c.1866G>C (p.Trp622Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926169C>T | CA391361075 | OCA2 | c.2037G>A (p.Trp679Ter) c.1965G>A (p.Trp655Ter) c.2061G>A (p.Trp687Ter) c.1989G>A (p.Trp663Ter) c.1923G>A (p.Trp641Ter) c.1866G>A (p.Trp622Ter) | |
| 15 | g.27926170C>A | CA391361077 | OCA2 | c.2036G>T (p.Trp679Leu) c.1964G>T (p.Trp655Leu) c.2060G>T (p.Trp687Leu) c.1988G>T (p.Trp663Leu) c.1922G>T (p.Trp641Leu) c.1865G>T (p.Trp622Leu) | dbSNP |
| 15 | g.27926170C= | CA2166365070 | OCA2 | c.2036G= (p.Trp679=) c.1964G= (p.Trp655=) c.2060G= (p.Trp687=) c.1988G= (p.Trp663=) c.1922G= (p.Trp641=) c.1865G= (p.Trp622=) | |
| 15 | g.27926170C>G | CA391361079 | OCA2 | c.2036G>C (p.Trp679Ser) c.1964G>C (p.Trp655Ser) c.2060G>C (p.Trp687Ser) c.1988G>C (p.Trp663Ser) c.1922G>C (p.Trp641Ser) c.1865G>C (p.Trp622Ser) | |
| 15 | g.27926170C>T | CA391361081 | OCA2 | c.2036G>A (p.Trp679Ter) c.1964G>A (p.Trp655Ter) c.2060G>A (p.Trp687Ter) c.1988G>A (p.Trp663Ter) c.1922G>A (p.Trp641Ter) c.1865G>A (p.Trp622Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926171A= | CA2166365071 | OCA2 | c.2035T= (p.Trp679=) c.1963T= (p.Trp655=) c.2059T= (p.Trp687=) c.1987T= (p.Trp663=) c.1921T= (p.Trp641=) c.1864T= (p.Trp622=) | |
| 15 | g.27926171A>C | CA391361083 | OCA2 | c.2035T>G (p.Trp679Gly) c.1963T>G (p.Trp655Gly) c.2059T>G (p.Trp687Gly) c.1987T>G (p.Trp663Gly) c.1921T>G (p.Trp641Gly) c.1864T>G (p.Trp622Gly) | |
| 15 | g.27926171A>G | CA7438791 | OCA2 | c.2035T>C (p.Trp679Arg) c.1963T>C (p.Trp655Arg) c.2059T>C (p.Trp687Arg) c.1987T>C (p.Trp663Arg) c.1921T>C (p.Trp641Arg) c.1864T>C (p.Trp622Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926171A>T | CA391361086 | OCA2 | c.2035T>A (p.Trp679Arg) c.1963T>A (p.Trp655Arg) c.2059T>A (p.Trp687Arg) c.1987T>A (p.Trp663Arg) c.1921T>A (p.Trp641Arg) c.1864T>A (p.Trp622Arg) | |
| 15 | g.27926172T>A | CA391361087 | OCA2 | c.2034A>T (p.Glu678Asp) c.1962A>T (p.Glu654Asp) c.2058A>T (p.Glu686Asp) c.1986A>T (p.Glu662Asp) c.1920A>T (p.Glu640Asp) c.1863A>T (p.Glu621Asp) | |
| 15 | g.27926172T>C | CA488959275 | OCA2 | c.2034A>G (p.Glu678=) c.1962A>G (p.Glu654=) c.2058A>G (p.Glu686=) c.1986A>G (p.Glu662=) c.1920A>G (p.Glu640=) c.1863A>G (p.Glu621=) | |
| 15 | g.27926172T>G | CA391361089 | OCA2 | c.2034A>C (p.Glu678Asp) c.1962A>C (p.Glu654Asp) c.2058A>C (p.Glu686Asp) c.1986A>C (p.Glu662Asp) c.1920A>C (p.Glu640Asp) c.1863A>C (p.Glu621Asp) | |
| 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=) |