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 |
|---|---|---|---|---|---|
| 8 | g.27463666G>A | CA4689597 | CHRNA2 | c.777C>T (p.Phe259=) c.*607C>T (n.*607C>T) c.732C>T (p.Phe244=) n.290-1912C>T c.711C>T (p.Phe237=) n.507C>T c.*179C>T (n.*179C>T) c.300C>T (p.Phe100=) c.183C>T (p.Phe61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463666G>C | CA370810739 | CHRNA2 | c.777C>G (p.Phe259Leu) c.*607C>G (n.*607C>G) c.732C>G (p.Phe244Leu) n.290-1912C>G c.711C>G (p.Phe237Leu) n.507C>G c.*179C>G (n.*179C>G) c.300C>G (p.Phe100Leu) c.183C>G (p.Phe61Leu) | |
| 8 | g.27463666G= | CA1772814529 | CHRNA2 | c.777C= (p.Phe259=) c.*607C= (n.*607C=) c.732C= (p.Phe244=) n.290-1912C= c.711C= (p.Phe237=) n.507C= c.*179C= (n.*179C=) c.300C= (p.Phe100=) c.183C= (p.Phe61=) | |
| 8 | g.27463666G>T | CA370810740 | CHRNA2 | c.777C>A (p.Phe259Leu) c.*607C>A (n.*607C>A) c.732C>A (p.Phe244Leu) n.290-1912C>A c.711C>A (p.Phe237Leu) n.507C>A c.*179C>A (n.*179C>A) c.300C>A (p.Phe100Leu) c.183C>A (p.Phe61Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463667A>C | CA370810743 | CHRNA2 | c.776T>G (p.Phe259Cys) c.*606T>G (n.*606T>G) c.731T>G (p.Phe244Cys) n.290-1913T>G c.710T>G (p.Phe237Cys) n.506T>G c.*178T>G (n.*178T>G) c.299T>G (p.Phe100Cys) c.182T>G (p.Phe61Cys) | |
| 8 | g.27463667A>G | CA370810744 | CHRNA2 | c.776T>C (p.Phe259Ser) c.*606T>C (n.*606T>C) c.731T>C (p.Phe244Ser) n.290-1913T>C c.710T>C (p.Phe237Ser) n.506T>C c.*178T>C (n.*178T>C) c.299T>C (p.Phe100Ser) c.182T>C (p.Phe61Ser) | |
| 8 | g.27463667A>T | CA370810745 | CHRNA2 | c.776T>A (p.Phe259Tyr) c.*606T>A (n.*606T>A) c.731T>A (p.Phe244Tyr) n.290-1913T>A c.710T>A (p.Phe237Tyr) n.506T>A c.*178T>A (n.*178T>A) c.299T>A (p.Phe100Tyr) c.182T>A (p.Phe61Tyr) | |
| 8 | g.27463668A>C | CA370810748 | CHRNA2 | c.775T>G (p.Phe259Val) c.*605T>G (n.*605T>G) c.730T>G (p.Phe244Val) n.290-1914T>G c.709T>G (p.Phe237Val) n.505T>G c.*177T>G (n.*177T>G) c.298T>G (p.Phe100Val) c.181T>G (p.Phe61Val) | |
| 8 | g.27463668A>G | CA370810750 | CHRNA2 | c.775T>C (p.Phe259Leu) c.*605T>C (n.*605T>C) c.730T>C (p.Phe244Leu) n.290-1914T>C c.709T>C (p.Phe237Leu) n.505T>C c.*177T>C (n.*177T>C) c.298T>C (p.Phe100Leu) c.181T>C (p.Phe61Leu) | |
| 8 | g.27463668A>T | CA370810751 | CHRNA2 | c.775T>A (p.Phe259Ile) c.*605T>A (n.*605T>A) c.730T>A (p.Phe244Ile) n.290-1914T>A c.709T>A (p.Phe237Ile) n.505T>A c.*177T>A (n.*177T>A) c.298T>A (p.Phe100Ile) c.181T>A (p.Phe61Ile) | |
| 8 | g.27463669G>A | CA460186208 | CHRNA2 | c.774C>T (p.Ala258=) c.*604C>T (n.*604C>T) c.729C>T (p.Ala243=) n.290-1915C>T c.708C>T (p.Ala236=) n.504C>T c.*176C>T (n.*176C>T) c.297C>T (p.Ala99=) c.180C>T (p.Ala60=) | |
| 8 | g.27463669G>C | CA460186209 | CHRNA2 | c.774C>G (p.Ala258=) c.*604C>G (n.*604C>G) c.729C>G (p.Ala243=) n.290-1915C>G c.708C>G (p.Ala236=) n.504C>G c.*176C>G (n.*176C>G) c.297C>G (p.Ala99=) c.180C>G (p.Ala60=) | |
| 8 | g.27463669G>T | CA460186211 | CHRNA2 | c.774C>A (p.Ala258=) c.*604C>A (n.*604C>A) c.729C>A (p.Ala243=) n.290-1915C>A c.708C>A (p.Ala236=) n.504C>A c.*176C>A (n.*176C>A) c.297C>A (p.Ala99=) c.180C>A (p.Ala60=) | |
| 8 | g.27463670G>A | CA370810753 | CHRNA2 | c.773C>T (p.Ala258Val) c.*603C>T (n.*603C>T) c.728C>T (p.Ala243Val) n.290-1916C>T c.707C>T (p.Ala236Val) n.503C>T c.*175C>T (n.*175C>T) c.296C>T (p.Ala99Val) c.179C>T (p.Ala60Val) | |
| 8 | g.27463670G>C | CA370810754 | CHRNA2 | c.773C>G (p.Ala258Gly) c.*603C>G (n.*603C>G) c.728C>G (p.Ala243Gly) n.290-1916C>G c.707C>G (p.Ala236Gly) n.503C>G c.*175C>G (n.*175C>G) c.296C>G (p.Ala99Gly) c.179C>G (p.Ala60Gly) | |
| 8 | g.27463670G>T | CA370810756 | CHRNA2 | c.773C>A (p.Ala258Asp) c.*603C>A (n.*603C>A) c.728C>A (p.Ala243Asp) n.290-1916C>A c.707C>A (p.Ala236Asp) n.503C>A c.*175C>A (n.*175C>A) c.296C>A (p.Ala99Asp) c.179C>A (p.Ala60Asp) | |
| 8 | g.27463671C>A | CA370810758 | CHRNA2 | c.772G>T (p.Ala258Ser) c.*602G>T (n.*602G>T) c.727G>T (p.Ala243Ser) n.290-1917G>T c.706G>T (p.Ala236Ser) n.502G>T c.*174G>T (n.*174G>T) c.295G>T (p.Ala99Ser) c.178G>T (p.Ala60Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463671C= | CA1772814533 | CHRNA2 | c.772G= (p.Ala258=) c.*602G= (n.*602G=) c.727G= (p.Ala243=) n.290-1917G= c.706G= (p.Ala236=) n.502G= c.*174G= (n.*174G=) c.295G= (p.Ala99=) c.178G= (p.Ala60=) | |
| 8 | g.27463671C>G | CA370810761 | CHRNA2 | c.772G>C (p.Ala258Pro) c.*602G>C (n.*602G>C) c.727G>C (p.Ala243Pro) n.290-1917G>C c.706G>C (p.Ala236Pro) n.502G>C c.*174G>C (n.*174G>C) c.295G>C (p.Ala99Pro) c.178G>C (p.Ala60Pro) | |
| 8 | g.27463671C>T | CA4689598 | CHRNA2 | c.772G>A (p.Ala258Thr) c.*602G>A (n.*602G>A) c.727G>A (p.Ala243Thr) n.290-1917G>A c.706G>A (p.Ala236Thr) n.502G>A c.*174G>A (n.*174G>A) c.295G>A (p.Ala99Thr) c.178G>A (p.Ala60Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463672G>A | CA152381 | CHRNA2 | c.771C>T (p.Tyr257=) c.*601C>T (n.*601C>T) c.726C>T (p.Tyr242=) n.290-1918C>T c.705C>T (p.Tyr235=) n.501C>T c.*173C>T (n.*173C>T) c.294C>T (p.Tyr98=) c.177C>T (p.Tyr59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463672G>C | CA370810764 | CHRNA2 | c.771C>G (p.Tyr257Ter) c.*601C>G (n.*601C>G) c.726C>G (p.Tyr242Ter) n.290-1918C>G c.705C>G (p.Tyr235Ter) n.501C>G c.*173C>G (n.*173C>G) c.294C>G (p.Tyr98Ter) c.177C>G (p.Tyr59Ter) | gnomAD v4 |
| 8 | g.27463672G= | CA1772814540 | CHRNA2 | c.771C= (p.Tyr257=) c.*601C= (n.*601C=) c.726C= (p.Tyr242=) n.290-1918C= c.705C= (p.Tyr235=) n.501C= c.*173C= (n.*173C=) c.294C= (p.Tyr98=) c.177C= (p.Tyr59=) | |
| 8 | g.27463672G>T | CA370810766 | CHRNA2 | c.771C>A (p.Tyr257Ter) c.*601C>A (n.*601C>A) c.726C>A (p.Tyr242Ter) n.290-1918C>A c.705C>A (p.Tyr235Ter) n.501C>A c.*173C>A (n.*173C>A) c.294C>A (p.Tyr98Ter) c.177C>A (p.Tyr59Ter) | gnomAD v4 |
| 8 | g.27463673T>A | CA370810767 | CHRNA2 | c.770A>T (p.Tyr257Phe) c.*600A>T (n.*600A>T) c.725A>T (p.Tyr242Phe) n.290-1919A>T c.704A>T (p.Tyr235Phe) n.500A>T c.*172A>T (n.*172A>T) c.293A>T (p.Tyr98Phe) c.176A>T (p.Tyr59Phe) | |
| 8 | g.27463673T>C | CA370810769 | CHRNA2 | c.770A>G (p.Tyr257Cys) c.*600A>G (n.*600A>G) c.725A>G (p.Tyr242Cys) n.290-1919A>G c.704A>G (p.Tyr235Cys) n.500A>G c.*172A>G (n.*172A>G) c.293A>G (p.Tyr98Cys) c.176A>G (p.Tyr59Cys) | |
| 8 | g.27463673T>G | CA370810771 | CHRNA2 | c.770A>C (p.Tyr257Ser) c.*600A>C (n.*600A>C) c.725A>C (p.Tyr242Ser) n.290-1919A>C c.704A>C (p.Tyr235Ser) n.500A>C c.*172A>C (n.*172A>C) c.293A>C (p.Tyr98Ser) c.176A>C (p.Tyr59Ser) | |
| 8 | g.27463674A= | CA1772814545 | CHRNA2 | c.769T= (p.Tyr257=) c.*599T= (n.*599T=) c.724T= (p.Tyr242=) n.290-1920T= c.703T= (p.Tyr235=) n.499T= c.*171T= (n.*171T=) c.292T= (p.Tyr98=) c.175T= (p.Tyr59=) | |
| 8 | g.27463674A>C | CA370810777 | CHRNA2 | c.769T>G (p.Tyr257Asp) c.*599T>G (n.*599T>G) c.724T>G (p.Tyr242Asp) n.290-1920T>G c.703T>G (p.Tyr235Asp) n.499T>G c.*171T>G (n.*171T>G) c.292T>G (p.Tyr98Asp) c.175T>G (p.Tyr59Asp) | |
| 8 | g.27463674A>G | CA370810775 | CHRNA2 | c.769T>C (p.Tyr257His) c.*599T>C (n.*599T>C) c.724T>C (p.Tyr242His) n.290-1920T>C c.703T>C (p.Tyr235His) n.499T>C c.*171T>C (n.*171T>C) c.292T>C (p.Tyr98His) c.175T>C (p.Tyr59His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463674A>T | CA370810773 | CHRNA2 | c.769T>A (p.Tyr257Asn) c.*599T>A (n.*599T>A) c.724T>A (p.Tyr242Asn) n.290-1920T>A c.703T>A (p.Tyr235Asn) n.499T>A c.*171T>A (n.*171T>A) c.292T>A (p.Tyr98Asn) c.175T>A (p.Tyr59Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463675G>A | CA460186220 | CHRNA2 | c.768C>T (p.Thr256=) c.*598C>T (n.*598C>T) c.723C>T (p.Thr241=) n.290-1921C>T c.702C>T (p.Thr234=) n.498C>T c.*170C>T (n.*170C>T) c.291C>T (p.Thr97=) c.174C>T (p.Thr58=) | |
| 8 | g.27463675G>C | CA460186219 | CHRNA2 | c.768C>G (p.Thr256=) c.*598C>G (n.*598C>G) c.723C>G (p.Thr241=) n.290-1921C>G c.702C>G (p.Thr234=) n.498C>G c.*170C>G (n.*170C>G) c.291C>G (p.Thr97=) c.174C>G (p.Thr58=) | |
| 8 | g.27463675G>T | CA460186218 | CHRNA2 | c.768C>A (p.Thr256=) c.*598C>A (n.*598C>A) c.723C>A (p.Thr241=) n.290-1921C>A c.702C>A (p.Thr234=) n.498C>A c.*170C>A (n.*170C>A) c.291C>A (p.Thr97=) c.174C>A (p.Thr58=) | |
| 8 | g.27463676G>A | CA370810778 | CHRNA2 | c.767C>T (p.Thr256Ile) c.*597C>T (n.*597C>T) c.722C>T (p.Thr241Ile) n.290-1922C>T c.701C>T (p.Thr234Ile) n.497C>T c.*169C>T (n.*169C>T) c.290C>T (p.Thr97Ile) c.173C>T (p.Thr58Ile) | ClinVar dbSNP |
| 8 | g.27463676G>C | CA370810780 | CHRNA2 | c.767C>G (p.Thr256Ser) c.*597C>G (n.*597C>G) c.722C>G (p.Thr241Ser) n.290-1922C>G c.701C>G (p.Thr234Ser) n.497C>G c.*169C>G (n.*169C>G) c.290C>G (p.Thr97Ser) c.173C>G (p.Thr58Ser) | |
| 8 | g.27463676G= | CA1772814549 | CHRNA2 | c.767C= (p.Thr256=) c.*597C= (n.*597C=) c.722C= (p.Thr241=) n.290-1922C= c.701C= (p.Thr234=) n.497C= c.*169C= (n.*169C=) c.290C= (p.Thr97=) c.173C= (p.Thr58=) | |
| 8 | g.27463676G>T | CA370810782 | CHRNA2 | c.767C>A (p.Thr256Asn) c.*597C>A (n.*597C>A) c.722C>A (p.Thr241Asn) n.290-1922C>A c.701C>A (p.Thr234Asn) n.497C>A c.*169C>A (n.*169C>A) c.290C>A (p.Thr97Asn) c.173C>A (p.Thr58Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463677T>A | CA370810784 | CHRNA2 | c.766A>T (p.Thr256Ser) c.*596A>T (n.*596A>T) c.721A>T (p.Thr241Ser) n.290-1923A>T c.700A>T (p.Thr234Ser) n.496A>T c.*168A>T (n.*168A>T) c.289A>T (p.Thr97Ser) c.172A>T (p.Thr58Ser) | |
| 8 | g.27463677T>C | CA370810785 | CHRNA2 | c.766A>G (p.Thr256Ala) c.*596A>G (n.*596A>G) c.721A>G (p.Thr241Ala) n.290-1923A>G c.700A>G (p.Thr234Ala) n.496A>G c.*168A>G (n.*168A>G) c.289A>G (p.Thr97Ala) c.172A>G (p.Thr58Ala) | |
| 8 | g.27463677T>G | CA370810787 | CHRNA2 | c.766A>C (p.Thr256Pro) c.*596A>C (n.*596A>C) c.721A>C (p.Thr241Pro) n.290-1923A>C c.700A>C (p.Thr234Pro) n.496A>C c.*168A>C (n.*168A>C) c.289A>C (p.Thr97Pro) c.172A>C (p.Thr58Pro) | |
| 8 | g.27463678G>A | CA460186228 | CHRNA2 | c.765C>T (p.Val255=) c.*595C>T (n.*595C>T) c.720C>T (p.Val240=) n.290-1924C>T c.699C>T (p.Val233=) n.495C>T c.*167C>T (n.*167C>T) c.288C>T (p.Val96=) c.171C>T (p.Val57=) | dbSNP gnomAD v4 |
| 8 | g.27463678G>C | CA460186238 | CHRNA2 | c.765C>G (p.Val255=) c.*595C>G (n.*595C>G) c.720C>G (p.Val240=) n.290-1924C>G c.699C>G (p.Val233=) n.495C>G c.*167C>G (n.*167C>G) c.288C>G (p.Val96=) c.171C>G (p.Val57=) | |
| 8 | g.27463678G= | CA1772814555 | CHRNA2 | c.765C= (p.Val255=) c.*595C= (n.*595C=) c.720C= (p.Val240=) n.290-1924C= c.699C= (p.Val233=) n.495C= c.*167C= (n.*167C=) c.288C= (p.Val96=) c.171C= (p.Val57=) | |
| 8 | g.27463678G>T | CA460186236 | CHRNA2 | c.765C>A (p.Val255=) c.*595C>A (n.*595C>A) c.720C>A (p.Val240=) n.290-1924C>A c.699C>A (p.Val233=) n.495C>A c.*167C>A (n.*167C>A) c.288C>A (p.Val96=) c.171C>A (p.Val57=) | |
| 8 | g.27463679A>C | CA370810791 | CHRNA2 | c.764T>G (p.Val255Gly) c.*594T>G (n.*594T>G) c.719T>G (p.Val240Gly) n.290-1925T>G c.698T>G (p.Val233Gly) n.494T>G c.*166T>G (n.*166T>G) c.287T>G (p.Val96Gly) c.170T>G (p.Val57Gly) | |
| 8 | g.27463679A>G | CA370810789 | CHRNA2 | c.764T>C (p.Val255Ala) c.*594T>C (n.*594T>C) c.719T>C (p.Val240Ala) n.290-1925T>C c.698T>C (p.Val233Ala) n.494T>C c.*166T>C (n.*166T>C) c.287T>C (p.Val96Ala) c.170T>C (p.Val57Ala) | |
| 8 | g.27463679A>T | CA370810790 | CHRNA2 | c.764T>A (p.Val255Asp) c.*594T>A (n.*594T>A) c.719T>A (p.Val240Asp) n.290-1925T>A c.698T>A (p.Val233Asp) n.494T>A c.*166T>A (n.*166T>A) c.287T>A (p.Val96Asp) c.170T>A (p.Val57Asp) | |
| 8 | g.27463680del | CA2573142640 | CHRNA2 | c.763del (p.Val255SerfsTer?) c.*593del (n.*593del) c.718del (p.Val240SerfsTer?) n.290-1926del c.697del (p.Val233SerfsTer?) n.493del c.*165del (n.*165del) c.286del (p.Val96SerfsTer?) c.169del (p.Val57SerfsTer?) | ClinVar dbSNP |
| 8 | g.27463680C>A | CA370810794 | CHRNA2 | c.763G>T (p.Val255Phe) c.*593G>T (n.*593G>T) c.718G>T (p.Val240Phe) n.290-1926G>T c.697G>T (p.Val233Phe) n.493G>T c.*165G>T (n.*165G>T) c.286G>T (p.Val96Phe) c.169G>T (p.Val57Phe) | dbSNP gnomAD v4 COSMIC |