WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110342335G>A | CA243509739 | ATP2A2 | c.2205G>A (p.Ala735=) c.*2045G>A (n.*2045G>A) c.1876G>A n.2211G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.110342335G>C | CA481736074 | ATP2A2 | c.2205G>C (p.Ala735=) c.*2045G>C (n.*2045G>C) c.1876G>C n.2211G>C | |
| 12 | g.110342335G= | CA2062806227 | ATP2A2 | c.2205G= (p.Ala735=) c.*2045G= (n.*2045G=) c.1876G= n.2211G= | |
| 12 | g.110342335G>T | CA481736077 | ATP2A2 | c.2205G>T (p.Ala735=) c.*2045G>T (n.*2045G>T) c.1876G>T n.2211G>T | dbSNP |
| 12 | g.110342336G>A | CA386675626 | ATP2A2 | c.2206G>A (p.Asp736Asn) c.*2046G>A (n.*2046G>A) c.1877G>A n.2212G>A | |
| 12 | g.110342336G>C | CA386675625 | ATP2A2 | c.2206G>C (p.Asp736His) c.*2046G>C (n.*2046G>C) c.1877G>C n.2212G>C | |
| 12 | g.110342336G>T | CA386675627 | ATP2A2 | c.2206G>T (p.Asp736Tyr) c.*2046G>T (n.*2046G>T) c.1877G>T n.2212G>T | |
| 12 | g.110342337A>C | CA386675628 | ATP2A2 | c.2207A>C (p.Asp736Ala) c.*2047A>C (n.*2047A>C) c.1878A>C n.2213A>C | |
| 12 | g.110342337A>G | CA386675629 | ATP2A2 | c.2207A>G (p.Asp736Gly) c.*2047A>G (n.*2047A>G) c.1878A>G n.2213A>G | |
| 12 | g.110342337A>T | CA386675630 | ATP2A2 | c.2207A>T (p.Asp736Val) c.*2047A>T (n.*2047A>T) c.1878A>T n.2213A>T | |
| 12 | g.110342338T>A | CA386675631 | ATP2A2 | c.2208T>A (p.Asp736Glu) c.*2048T>A (n.*2048T>A) c.1879T>A n.2214T>A | |
| 12 | g.110342338T>C | CA481736091 | ATP2A2 | c.2208T>C (p.Asp736=) c.*2048T>C (n.*2048T>C) c.1879T>C n.2214T>C | |
| 12 | g.110342338T>G | CA386675632 | ATP2A2 | c.2208T>G (p.Asp736Glu) c.*2048T>G (n.*2048T>G) c.1879T>G n.2214T>G | |
| 12 | g.110342339G>A | CA386675633 | ATP2A2 | c.2209G>A (p.Asp737Asn) c.*2049G>A (n.*2049G>A) c.1880G>A n.2215G>A | |
| 12 | g.110342339G>C | CA386675634 | ATP2A2 | c.2209G>C (p.Asp737His) c.*2049G>C (n.*2049G>C) c.1880G>C n.2215G>C | |
| 12 | g.110342339G>T | CA386675635 | ATP2A2 | c.2209G>T (p.Asp737Tyr) c.*2049G>T (n.*2049G>T) c.1880G>T n.2215G>T | gnomAD v4 |
| 12 | g.110342340A>C | CA386675636 | ATP2A2 | c.2210A>C (p.Asp737Ala) c.*2050A>C (n.*2050A>C) c.1881A>C n.2216A>C | |
| 12 | g.110342340A>G | CA386675637 | ATP2A2 | c.2210A>G (p.Asp737Gly) c.*2050A>G (n.*2050A>G) c.1881A>G n.2216A>G | |
| 12 | g.110342340A>T | CA386675638 | ATP2A2 | c.2210A>T (p.Asp737Val) c.*2050A>T (n.*2050A>T) c.1881A>T n.2216A>T | |
| 12 | g.110342341C>A | CA386675639 | ATP2A2 | c.2211C>A (p.Asp737Glu) c.*2051C>A (n.*2051C>A) c.1882C>A n.2217C>A | |
| 12 | g.110342341C= | CA2062806229 | ATP2A2 | c.2211C= (p.Asp737=) c.*2051C= (n.*2051C=) c.1882C= n.2217C= | |
| 12 | g.110342341C>G | CA386675640 | ATP2A2 | c.2211C>G (p.Asp737Glu) c.*2051C>G (n.*2051C>G) c.1882C>G n.2217C>G | |
| 12 | g.110342341C>T | CA481736106 | ATP2A2 | c.2211C>T (p.Asp737=) c.*2051C>T (n.*2051C>T) c.1882C>T n.2217C>T | dbSNP gnomAD v4 |
| 12 | g.110342342A>C | CA386675641 | ATP2A2 | c.2212A>C (p.Asn738His) c.*2052A>C (n.*2052A>C) c.1883A>C n.2218A>C | |
| 12 | g.110342342A>G | CA386675643 | ATP2A2 | c.2212A>G (p.Asn738Asp) c.*2052A>G (n.*2052A>G) c.1883A>G n.2218A>G | |
| 12 | g.110342342A>T | CA386675642 | ATP2A2 | c.2212A>T (p.Asn738Tyr) c.*2052A>T (n.*2052A>T) c.1883A>T n.2218A>T | |
| 12 | g.110342343A>C | CA386675644 | ATP2A2 | c.2213A>C (p.Asn738Thr) c.*2053A>C (n.*2053A>C) c.1884A>C n.2219A>C | |
| 12 | g.110342343A>G | CA386675645 | ATP2A2 | c.2213A>G (p.Asn738Ser) c.*2053A>G (n.*2053A>G) c.1884A>G n.2219A>G | |
| 12 | g.110342343A>T | CA386675646 | ATP2A2 | c.2213A>T (p.Asn738Ile) c.*2053A>T (n.*2053A>T) c.1884A>T n.2219A>T | |
| 12 | g.110342344C>A | CA386675647 | ATP2A2 | c.2214C>A (p.Asn738Lys) c.*2054C>A (n.*2054C>A) c.1885C>A n.2220C>A | |
| 12 | g.110342344C>G | CA386675648 | ATP2A2 | c.2214C>G (p.Asn738Lys) c.*2054C>G (n.*2054C>G) c.1885C>G n.2220C>G | |
| 12 | g.110342344C>T | CA481736124 | ATP2A2 | c.2214C>T (p.Asn738=) c.*2054C>T (n.*2054C>T) c.1885C>T n.2220C>T | |
| 12 | g.110342345T>A | CA386675649 | ATP2A2 | c.2215T>A (p.Phe739Ile) c.*2055T>A (n.*2055T>A) c.1886T>A n.2221T>A | |
| 12 | g.110342345T>C | CA386675650 | ATP2A2 | c.2215T>C (p.Phe739Leu) c.*2055T>C (n.*2055T>C) c.1886T>C n.2221T>C | |
| 12 | g.110342345T>G | CA386675651 | ATP2A2 | c.2215T>G (p.Phe739Val) c.*2055T>G (n.*2055T>G) c.1886T>G n.2221T>G | |
| 12 | g.110342346T>A | CA386675652 | ATP2A2 | c.2216T>A (p.Phe739Tyr) c.*2056T>A (n.*2056T>A) c.1887T>A n.2222T>A | ClinVar dbSNP |
| 12 | g.110342346T>C | CA386675653 | ATP2A2 | c.2216T>C (p.Phe739Ser) c.*2056T>C (n.*2056T>C) c.1887T>C n.2222T>C | |
| 12 | g.110342346T>G | CA386675654 | ATP2A2 | c.2216T>G (p.Phe739Cys) c.*2056T>G (n.*2056T>G) c.1887T>G n.2222T>G | |
| 12 | g.110342347C>A | CA386675655 | ATP2A2 | c.2217C>A (p.Phe739Leu) c.*2057C>A (n.*2057C>A) c.1888C>A n.2223C>A | |
| 12 | g.110342347C>G | CA386675656 | ATP2A2 | c.2217C>G (p.Phe739Leu) c.*2057C>G (n.*2057C>G) c.1888C>G n.2223C>G | |
| 12 | g.110342347C>T | CA481736141 | ATP2A2 | c.2217C>T (p.Phe739=) c.*2057C>T (n.*2057C>T) c.1888C>T n.2223C>T | |
| 12 | g.110342348T>A | CA386675657 | ATP2A2 | c.2218T>A (p.Ser740Thr) c.*2058T>A (n.*2058T>A) c.1889T>A n.2224T>A | |
| 12 | g.110342348T>C | CA386675658 | ATP2A2 | c.2218T>C (p.Ser740Pro) c.*2058T>C (n.*2058T>C) c.1889T>C n.2224T>C | |
| 12 | g.110342348T>G | CA386675659 | ATP2A2 | c.2218T>G (p.Ser740Ala) c.*2058T>G (n.*2058T>G) c.1889T>G n.2224T>G | dbSNP |
| 12 | g.110342349C>A | CA386675660 | ATP2A2 | c.2219C>A (p.Ser740Tyr) c.*2059C>A (n.*2059C>A) c.1890C>A n.2225C>A | |
| 12 | g.110342349C>G | CA386675661 | ATP2A2 | c.2219C>G (p.Ser740Cys) c.*2059C>G (n.*2059C>G) c.1890C>G n.2225C>G | |
| 12 | g.110342349C>T | CA386675662 | ATP2A2 | c.2219C>T (p.Ser740Phe) c.*2059C>T (n.*2059C>T) c.1890C>T n.2225C>T | |
| 12 | g.110342350C>A | CA481736149 | ATP2A2 | c.2220C>A (p.Ser740=) c.*2060C>A (n.*2060C>A) c.1891C>A n.2226C>A | |
| 12 | g.110342350C= | CA2062806231 | ATP2A2 | c.2220C= (p.Ser740=) c.*2060C= (n.*2060C=) c.1891C= n.2226C= | |
| 12 | g.110342350C>G | CA481736152 | ATP2A2 | c.2220C>G (p.Ser740=) c.*2060C>G (n.*2060C>G) c.1891C>G n.2226C>G |