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.27926161A= | CA2166365066 | OCA2 | c.2045T= (p.Leu682=) c.1973T= (p.Leu658=) c.2069T= (p.Leu690=) c.1997T= (p.Leu666=) c.1931T= (p.Leu644=) c.1874T= (p.Leu625=) | |
| 15 | g.27926161A>C | CA391361035 | OCA2 | c.2045T>G (p.Leu682Arg) c.1973T>G (p.Leu658Arg) c.2069T>G (p.Leu690Arg) c.1997T>G (p.Leu666Arg) c.1931T>G (p.Leu644Arg) c.1874T>G (p.Leu625Arg) | |
| 15 | g.27926161A>G | CA391361037 | OCA2 | c.2045T>C (p.Leu682Pro) c.1973T>C (p.Leu658Pro) c.2069T>C (p.Leu690Pro) c.1997T>C (p.Leu666Pro) c.1931T>C (p.Leu644Pro) c.1874T>C (p.Leu625Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926161A>T | CA391361039 | OCA2 | c.2045T>A (p.Leu682His) c.1973T>A (p.Leu658His) c.2069T>A (p.Leu690His) c.1997T>A (p.Leu666His) c.1931T>A (p.Leu644His) c.1874T>A (p.Leu625His) | |
| 15 | g.27926162G>A | CA391361041 | OCA2 | c.2044C>T (p.Leu682Phe) c.1972C>T (p.Leu658Phe) c.2068C>T (p.Leu690Phe) c.1996C>T (p.Leu666Phe) c.1930C>T (p.Leu644Phe) c.1873C>T (p.Leu625Phe) | |
| 15 | g.27926162G>C | CA391361042 | OCA2 | c.2044C>G (p.Leu682Val) c.1972C>G (p.Leu658Val) c.2068C>G (p.Leu690Val) c.1996C>G (p.Leu666Val) c.1930C>G (p.Leu644Val) c.1873C>G (p.Leu625Val) | gnomAD v4 |
| 15 | g.27926162G>T | CA391361044 | OCA2 | c.2044C>A (p.Leu682Ile) c.1972C>A (p.Leu658Ile) c.2068C>A (p.Leu690Ile) c.1996C>A (p.Leu666Ile) c.1930C>A (p.Leu644Ile) c.1873C>A (p.Leu625Ile) | |
| 15 | g.27926164del | CA488959270 | OCA2 | c.2044del (p.Leu682PhefsTer10) c.1972del (p.Leu658PhefsTer10) c.2068del (p.Leu690PhefsTer10) c.1996del (p.Leu666PhefsTer10) c.1930del (p.Leu644PhefsTer10) c.1873del (p.Leu625PhefsTer10) | |
| 15 | g.27926163G>A | CA488959271 | OCA2 | c.2043C>T (p.Thr681=) c.1971C>T (p.Thr657=) c.2067C>T (p.Thr689=) c.1995C>T (p.Thr665=) c.1929C>T (p.Thr643=) c.1872C>T (p.Thr624=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926163G>C | CA7438789 | OCA2 | c.2043C>G (p.Thr681=) c.1971C>G (p.Thr657=) c.2067C>G (p.Thr689=) c.1995C>G (p.Thr665=) c.1929C>G (p.Thr643=) c.1872C>G (p.Thr624=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926163G= | CA2166365067 | OCA2 | c.2043C= (p.Thr681=) c.1971C= (p.Thr657=) c.2067C= (p.Thr689=) c.1995C= (p.Thr665=) c.1929C= (p.Thr643=) c.1872C= (p.Thr624=) | |
| 15 | g.27926163G>T | CA7438790 | OCA2 | c.2043C>A (p.Thr681=) c.1971C>A (p.Thr657=) c.2067C>A (p.Thr689=) c.1995C>A (p.Thr665=) c.1929C>A (p.Thr643=) c.1872C>A (p.Thr624=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926164G>A | CA391361050 | OCA2 | c.2042C>T (p.Thr681Ile) c.1970C>T (p.Thr657Ile) c.2066C>T (p.Thr689Ile) c.1994C>T (p.Thr665Ile) c.1928C>T (p.Thr643Ile) c.1871C>T (p.Thr624Ile) | |
| 15 | g.27926164G>C | CA391361051 | OCA2 | c.2042C>G (p.Thr681Ser) c.1970C>G (p.Thr657Ser) c.2066C>G (p.Thr689Ser) c.1994C>G (p.Thr665Ser) c.1928C>G (p.Thr643Ser) c.1871C>G (p.Thr624Ser) | dbSNP |
| 15 | g.27926164G= | CA2166365068 | OCA2 | c.2042C= (p.Thr681=) c.1970C= (p.Thr657=) c.2066C= (p.Thr689=) c.1994C= (p.Thr665=) c.1928C= (p.Thr643=) c.1871C= (p.Thr624=) | |
| 15 | g.27926164G>T | CA391361053 | OCA2 | c.2042C>A (p.Thr681Asn) c.1970C>A (p.Thr657Asn) c.2066C>A (p.Thr689Asn) c.1994C>A (p.Thr665Asn) c.1928C>A (p.Thr643Asn) c.1871C>A (p.Thr624Asn) | |
| 15 | g.27926165T>A | CA391361056 | OCA2 | c.2041A>T (p.Thr681Ser) c.1969A>T (p.Thr657Ser) c.2065A>T (p.Thr689Ser) c.1993A>T (p.Thr665Ser) c.1927A>T (p.Thr643Ser) c.1870A>T (p.Thr624Ser) | |
| 15 | g.27926165T>C | CA391361057 | OCA2 | c.2041A>G (p.Thr681Ala) c.1969A>G (p.Thr657Ala) c.2065A>G (p.Thr689Ala) c.1993A>G (p.Thr665Ala) c.1927A>G (p.Thr643Ala) c.1870A>G (p.Thr624Ala) | |
| 15 | g.27926165T>G | CA391361060 | OCA2 | c.2041A>C (p.Thr681Pro) c.1969A>C (p.Thr657Pro) c.2065A>C (p.Thr689Pro) c.1993A>C (p.Thr665Pro) c.1927A>C (p.Thr643Pro) c.1870A>C (p.Thr624Pro) | |
| 15 | g.27926166del | CA2730411292 | OCA2 | c.2041del (p.Thr681ProfsTer11) c.1969del (p.Thr657ProfsTer11) c.2065del (p.Thr689ProfsTer11) c.1993del (p.Thr665ProfsTer11) c.1927del (p.Thr643ProfsTer11) c.1870del (p.Thr624ProfsTer11) | dbSNP |
| 15 | g.27926166T>A | CA488959272 | OCA2 | c.2040A>T (p.Ala680=) c.1968A>T (p.Ala656=) c.2064A>T (p.Ala688=) c.1992A>T (p.Ala664=) c.1926A>T (p.Ala642=) c.1869A>T (p.Ala623=) | |
| 15 | g.27926166T>C | CA488959274 | OCA2 | c.2040A>G (p.Ala680=) c.1968A>G (p.Ala656=) c.2064A>G (p.Ala688=) c.1992A>G (p.Ala664=) c.1926A>G (p.Ala642=) c.1869A>G (p.Ala623=) | |
| 15 | g.27926166T>G | CA488959273 | OCA2 | c.2040A>C (p.Ala680=) c.1968A>C (p.Ala656=) c.2064A>C (p.Ala688=) c.1992A>C (p.Ala664=) c.1926A>C (p.Ala642=) c.1869A>C (p.Ala623=) | |
| 15 | g.27926167G>A | CA391361062 | OCA2 | c.2039C>T (p.Ala680Val) c.1967C>T (p.Ala656Val) c.2063C>T (p.Ala688Val) c.1991C>T (p.Ala664Val) c.1925C>T (p.Ala642Val) c.1868C>T (p.Ala623Val) | gnomAD v4 |
| 15 | g.27926167G>C | CA391361064 | OCA2 | c.2039C>G (p.Ala680Gly) c.1967C>G (p.Ala656Gly) c.2063C>G (p.Ala688Gly) c.1991C>G (p.Ala664Gly) c.1925C>G (p.Ala642Gly) c.1868C>G (p.Ala623Gly) | |
| 15 | g.27926167G>T | CA391361066 | OCA2 | c.2039C>A (p.Ala680Glu) c.1967C>A (p.Ala656Glu) c.2063C>A (p.Ala688Glu) c.1991C>A (p.Ala664Glu) c.1925C>A (p.Ala642Glu) c.1868C>A (p.Ala623Glu) | gnomAD v4 |
| 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) |