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.27955165dup | CA616709123 | OCA2 | c.1841dup (p.His615AlafsTer2) c.1769dup (p.His591AlafsTer2) c.1865dup (p.His623AlafsTer2) c.1793dup (p.His599AlafsTer2) c.1727dup (p.His577AlafsTer2) c.1865dup (p.Ala623SerfsTer14) c.1670dup (p.His558AlafsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27955165del | CA488959888 | OCA2 | c.1841del (p.Lys614SerfsTer14) c.1769del (p.Lys590SerfsTer14) c.1865del (p.Lys622SerfsTer14) c.1793del (p.Lys598SerfsTer14) c.1727del (p.Lys576SerfsTer14) c.1865del (p.Ala623HisfsTer?) c.1670del (p.Lys557SerfsTer14) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.27955161T>A | CA391365132 | OCA2 | c.1839A>T (p.Lys613Asn) c.1767A>T (p.Lys589Asn) c.1863A>T (p.Lys621Asn) c.1791A>T (p.Lys597Asn) c.1725A>T (p.Lys575Asn) c.1668A>T (p.Lys556Asn) | |
| 15 | g.27955161T>C | CA488959890 | OCA2 | c.1839A>G (p.Lys613=) c.1767A>G (p.Lys589=) c.1863A>G (p.Lys621=) c.1791A>G (p.Lys597=) c.1725A>G (p.Lys575=) c.1668A>G (p.Lys556=) | |
| 15 | g.27955161T>G | CA391365133 | OCA2 | c.1839A>C (p.Lys613Asn) c.1767A>C (p.Lys589Asn) c.1863A>C (p.Lys621Asn) c.1791A>C (p.Lys597Asn) c.1725A>C (p.Lys575Asn) c.1668A>C (p.Lys556Asn) | COSMIC |
| 15 | g.27955162T>A | CA391365135 | OCA2 | c.1838A>T (p.Lys613Ile) c.1766A>T (p.Lys589Ile) c.1862A>T (p.Lys621Ile) c.1790A>T (p.Lys597Ile) c.1724A>T (p.Lys575Ile) c.1667A>T (p.Lys556Ile) | |
| 15 | g.27955162T>C | CA7438892 | OCA2 | c.1838A>G (p.Lys613Arg) c.1766A>G (p.Lys589Arg) c.1862A>G (p.Lys621Arg) c.1790A>G (p.Lys597Arg) c.1724A>G (p.Lys575Arg) c.1667A>G (p.Lys556Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27955162T>G | CA391365134 | OCA2 | c.1838A>C (p.Lys613Thr) c.1766A>C (p.Lys589Thr) c.1862A>C (p.Lys621Thr) c.1790A>C (p.Lys597Thr) c.1724A>C (p.Lys575Thr) c.1667A>C (p.Lys556Thr) | |
| 15 | g.27955162T= | CA2166399784 | OCA2 | c.1838A= (p.Lys613=) c.1766A= (p.Lys589=) c.1862A= (p.Lys621=) c.1790A= (p.Lys597=) c.1724A= (p.Lys575=) c.1667A= (p.Lys556=) | |
| 15 | g.27955163T>A | CA391365136 | OCA2 | c.1837A>T (p.Lys613Ter) c.1765A>T (p.Lys589Ter) c.1861A>T (p.Lys621Ter) c.1789A>T (p.Lys597Ter) c.1723A>T (p.Lys575Ter) c.1666A>T (p.Lys556Ter) | |
| 15 | g.27955163T>C | CA391365137 | OCA2 | c.1837A>G (p.Lys613Glu) c.1765A>G (p.Lys589Glu) c.1861A>G (p.Lys621Glu) c.1789A>G (p.Lys597Glu) c.1723A>G (p.Lys575Glu) c.1666A>G (p.Lys556Glu) | |
| 15 | g.27955163T>G | CA391365138 | OCA2 | c.1837A>C (p.Lys613Gln) c.1765A>C (p.Lys589Gln) c.1861A>C (p.Lys621Gln) c.1789A>C (p.Lys597Gln) c.1723A>C (p.Lys575Gln) c.1666A>C (p.Lys556Gln) | |
| 15 | g.27955164T>A | CA391365139 | OCA2 | c.1836A>T (p.Gln612His) c.1764A>T (p.Gln588His) c.1860A>T (p.Gln620His) c.1788A>T (p.Gln596His) c.1722A>T (p.Gln574His) c.1665A>T (p.Gln555His) | |
| 15 | g.27955164T>C | CA488959893 | OCA2 | c.1836A>G (p.Gln612=) c.1764A>G (p.Gln588=) c.1860A>G (p.Gln620=) c.1788A>G (p.Gln596=) c.1722A>G (p.Gln574=) c.1665A>G (p.Gln555=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27955164T>G | CA391365140 | OCA2 | c.1836A>C (p.Gln612His) c.1764A>C (p.Gln588His) c.1860A>C (p.Gln620His) c.1788A>C (p.Gln596His) c.1722A>C (p.Gln574His) c.1665A>C (p.Gln555His) | |
| 15 | g.27955164T= | CA2166399787 | OCA2 | c.1836A= (p.Gln612=) c.1764A= (p.Gln588=) c.1860A= (p.Gln620=) c.1788A= (p.Gln596=) c.1722A= (p.Gln574=) c.1665A= (p.Gln555=) | |
| 15 | g.27955165T>A | CA391365141 | OCA2 | c.1835A>T (p.Gln612Leu) c.1763A>T (p.Gln588Leu) c.1859A>T (p.Gln620Leu) c.1787A>T (p.Gln596Leu) c.1721A>T (p.Gln574Leu) c.1664A>T (p.Gln555Leu) | |
| 15 | g.27955165T>C | CA391365142 | OCA2 | c.1835A>G (p.Gln612Arg) c.1763A>G (p.Gln588Arg) c.1859A>G (p.Gln620Arg) c.1787A>G (p.Gln596Arg) c.1721A>G (p.Gln574Arg) c.1664A>G (p.Gln555Arg) | |
| 15 | g.27955165T>G | CA391365143 | OCA2 | c.1835A>C (p.Gln612Pro) c.1763A>C (p.Gln588Pro) c.1859A>C (p.Gln620Pro) c.1787A>C (p.Gln596Pro) c.1721A>C (p.Gln574Pro) c.1664A>C (p.Gln555Pro) | |
| 15 | g.27955166G>A | CA391365144 | OCA2 | c.1834C>T (p.Gln612Ter) c.1762C>T (p.Gln588Ter) c.1858C>T (p.Gln620Ter) c.1786C>T (p.Gln596Ter) c.1720C>T (p.Gln574Ter) c.1663C>T (p.Gln555Ter) | ClinVar |
| 15 | g.27955166G>C | CA391365145 | OCA2 | c.1834C>G (p.Gln612Glu) c.1762C>G (p.Gln588Glu) c.1858C>G (p.Gln620Glu) c.1786C>G (p.Gln596Glu) c.1720C>G (p.Gln574Glu) c.1663C>G (p.Gln555Glu) | |
| 15 | g.27955166G>T | CA391365146 | OCA2 | c.1834C>A (p.Gln612Lys) c.1762C>A (p.Gln588Lys) c.1858C>A (p.Gln620Lys) c.1786C>A (p.Gln596Lys) c.1720C>A (p.Gln574Lys) c.1663C>A (p.Gln555Lys) | |
| 15 | g.27955166_27955169del | CA968029634 | OCA2 | c.1831_1834del (p.Leu611LysfsTer16) c.1759_1762del (p.Leu587LysfsTer16) c.1855_1858del (p.Leu619LysfsTer16) c.1783_1786del (p.Leu595LysfsTer16) c.1717_1720del (p.Leu573LysfsTer16) c.1855_1858del (p.Leu619LysfsTer?) c.1660_1663del (p.Leu554LysfsTer16) | gnomAD v3 gnomAD v4 |
| 15 | g.27955167G>A | CA488959897 | OCA2 | c.1833C>T (p.Leu611=) c.1761C>T (p.Leu587=) c.1857C>T (p.Leu619=) c.1785C>T (p.Leu595=) c.1719C>T (p.Leu573=) c.1662C>T (p.Leu554=) | |
| 15 | g.27955167G>C | CA488959898 | OCA2 | c.1833C>G (p.Leu611=) c.1761C>G (p.Leu587=) c.1857C>G (p.Leu619=) c.1785C>G (p.Leu595=) c.1719C>G (p.Leu573=) c.1662C>G (p.Leu554=) | ClinVar COSMIC COSMIC |
| 15 | g.27955167G>T | CA488959899 | OCA2 | c.1833C>A (p.Leu611=) c.1761C>A (p.Leu587=) c.1857C>A (p.Leu619=) c.1785C>A (p.Leu595=) c.1719C>A (p.Leu573=) c.1662C>A (p.Leu554=) | |
| 15 | g.27955168A= | CA2166399790 | OCA2 | c.1832T= (p.Leu611=) c.1760T= (p.Leu587=) c.1856T= (p.Leu619=) c.1784T= (p.Leu595=) c.1718T= (p.Leu573=) c.1661T= (p.Leu554=) | |
| 15 | g.27955168A>C | CA391365147 | OCA2 | c.1832T>G (p.Leu611Arg) c.1760T>G (p.Leu587Arg) c.1856T>G (p.Leu619Arg) c.1784T>G (p.Leu595Arg) c.1718T>G (p.Leu573Arg) c.1661T>G (p.Leu554Arg) | |
| 15 | g.27955168A>G | CA7438893 | OCA2 | c.1832T>C (p.Leu611Pro) c.1760T>C (p.Leu587Pro) c.1856T>C (p.Leu619Pro) c.1784T>C (p.Leu595Pro) c.1718T>C (p.Leu573Pro) c.1661T>C (p.Leu554Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27955168A>T | CA391365148 | OCA2 | c.1832T>A (p.Leu611His) c.1760T>A (p.Leu587His) c.1856T>A (p.Leu619His) c.1784T>A (p.Leu595His) c.1718T>A (p.Leu573His) c.1661T>A (p.Leu554His) | |
| 15 | g.27955169G>A | CA391365150 | OCA2 | c.1831C>T (p.Leu611Phe) c.1759C>T (p.Leu587Phe) c.1855C>T (p.Leu619Phe) c.1783C>T (p.Leu595Phe) c.1717C>T (p.Leu573Phe) c.1660C>T (p.Leu554Phe) | |
| 15 | g.27955169G>C | CA7438894 | OCA2 | c.1831C>G (p.Leu611Val) c.1759C>G (p.Leu587Val) c.1855C>G (p.Leu619Val) c.1783C>G (p.Leu595Val) c.1717C>G (p.Leu573Val) c.1660C>G (p.Leu554Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27955169G= | CA2166399793 | OCA2 | c.1831C= (p.Leu611=) c.1759C= (p.Leu587=) c.1855C= (p.Leu619=) c.1783C= (p.Leu595=) c.1717C= (p.Leu573=) c.1660C= (p.Leu554=) | |
| 15 | g.27955169G>T | CA391365149 | OCA2 | c.1831C>A (p.Leu611Ile) c.1759C>A (p.Leu587Ile) c.1855C>A (p.Leu619Ile) c.1783C>A (p.Leu595Ile) c.1717C>A (p.Leu573Ile) c.1660C>A (p.Leu554Ile) | |
| 15 | g.27955170T>A | CA391365151 | OCA2 | c.1830A>T (p.Glu610Asp) c.1758A>T (p.Glu586Asp) c.1854A>T (p.Glu618Asp) c.1782A>T (p.Glu594Asp) c.1716A>T (p.Glu572Asp) c.1659A>T (p.Glu553Asp) | |
| 15 | g.27955170T>C | CA488959901 | OCA2 | c.1830A>G (p.Glu610=) c.1758A>G (p.Glu586=) c.1854A>G (p.Glu618=) c.1782A>G (p.Glu594=) c.1716A>G (p.Glu572=) c.1659A>G (p.Glu553=) | |
| 15 | g.27955170T>G | CA391365152 | OCA2 | c.1830A>C (p.Glu610Asp) c.1758A>C (p.Glu586Asp) c.1854A>C (p.Glu618Asp) c.1782A>C (p.Glu594Asp) c.1716A>C (p.Glu572Asp) c.1659A>C (p.Glu553Asp) | |
| 15 | g.27955171T>A | CA391365153 | OCA2 | c.1829A>T (p.Glu610Val) c.1757A>T (p.Glu586Val) c.1853A>T (p.Glu618Val) c.1781A>T (p.Glu594Val) c.1715A>T (p.Glu572Val) c.1658A>T (p.Glu553Val) | |
| 15 | g.27955171T>C | CA391365154 | OCA2 | c.1829A>G (p.Glu610Gly) c.1757A>G (p.Glu586Gly) c.1853A>G (p.Glu618Gly) c.1781A>G (p.Glu594Gly) c.1715A>G (p.Glu572Gly) c.1658A>G (p.Glu553Gly) | |
| 15 | g.27955171T>G | CA391365155 | OCA2 | c.1829A>C (p.Glu610Ala) c.1757A>C (p.Glu586Ala) c.1853A>C (p.Glu618Ala) c.1781A>C (p.Glu594Ala) c.1715A>C (p.Glu572Ala) c.1658A>C (p.Glu553Ala) | |
| 15 | g.27955172C>A | CA391365156 | OCA2 | c.1828G>T (p.Glu610Ter) c.1756G>T (p.Glu586Ter) c.1852G>T (p.Glu618Ter) c.1780G>T (p.Glu594Ter) c.1714G>T (p.Glu572Ter) c.1657G>T (p.Glu553Ter) | ClinVar COSMIC COSMIC |
| 15 | g.27955172C>G | CA391365157 | OCA2 | c.1828G>C (p.Glu610Gln) c.1756G>C (p.Glu586Gln) c.1852G>C (p.Glu618Gln) c.1780G>C (p.Glu594Gln) c.1714G>C (p.Glu572Gln) c.1657G>C (p.Glu553Gln) | |
| 15 | g.27955172C>T | CA391365158 | OCA2 | c.1828G>A (p.Glu610Lys) c.1756G>A (p.Glu586Lys) c.1852G>A (p.Glu618Lys) c.1780G>A (p.Glu594Lys) c.1714G>A (p.Glu572Lys) c.1657G>A (p.Glu553Lys) | gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.27955173T>A | CA391365159 | OCA2 | c.1827A>T (p.Gln609His) c.1755A>T (p.Gln585His) c.1851A>T (p.Gln617His) c.1779A>T (p.Gln593His) c.1713A>T (p.Gln571His) c.1656A>T (p.Gln552His) | |
| 15 | g.27955173T>C | CA488959904 | OCA2 | c.1827A>G (p.Gln609=) c.1755A>G (p.Gln585=) c.1851A>G (p.Gln617=) c.1779A>G (p.Gln593=) c.1713A>G (p.Gln571=) c.1656A>G (p.Gln552=) | gnomAD v4 COSMIC COSMIC |
| 15 | g.27955173T>G | CA391365160 | OCA2 | c.1827A>C (p.Gln609His) c.1755A>C (p.Gln585His) c.1851A>C (p.Gln617His) c.1779A>C (p.Gln593His) c.1713A>C (p.Gln571His) c.1656A>C (p.Gln552His) | |
| 15 | g.27955174T>A | CA391365161 | OCA2 | c.1826A>T (p.Gln609Leu) c.1754A>T (p.Gln585Leu) c.1850A>T (p.Gln617Leu) c.1778A>T (p.Gln593Leu) c.1712A>T (p.Gln571Leu) c.1655A>T (p.Gln552Leu) | |
| 15 | g.27955174T>C | CA391365162 | OCA2 | c.1826A>G (p.Gln609Arg) c.1754A>G (p.Gln585Arg) c.1850A>G (p.Gln617Arg) c.1778A>G (p.Gln593Arg) c.1712A>G (p.Gln571Arg) c.1655A>G (p.Gln552Arg) | |
| 15 | g.27955174T>G | CA391365163 | OCA2 | c.1826A>C (p.Gln609Pro) c.1754A>C (p.Gln585Pro) c.1850A>C (p.Gln617Pro) c.1778A>C (p.Gln593Pro) c.1712A>C (p.Gln571Pro) c.1655A>C (p.Gln552Pro) | gnomAD v4 |
| 15 | g.27955175G>A | CA391365166 | OCA2 | c.1825C>T (p.Gln609Ter) c.1753C>T (p.Gln585Ter) c.1849C>T (p.Gln617Ter) c.1777C>T (p.Gln593Ter) c.1711C>T (p.Gln571Ter) c.1654C>T (p.Gln552Ter) | gnomAD v4 |