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.27463605_27463619del | CA2686678232 | CHRNA2 | c.831_845del (p.Leu278_Leu282del) c.*661_*675del (n.*661_*675del) c.786_800del (p.Leu263_Leu267del) n.290-1858_290-1844del c.765_779del (p.Leu256_Leu260del) c.*233_*247del (n.*233_*247del) c.354_368del (p.Leu119_Leu123del) c.237_251del (p.Leu80_Leu84del) | gnomAD v4 |
| 8 | g.27463608_27463643dup | CA2686678233 | CHRNA2 | c.803_838dup (p.Ile279_Ser280insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.*633_*668dup (n.*633_*668dup) c.758_793dup (p.Ile264_Ser265insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) n.290-1886_290-1851dup c.737_772dup (p.Ile257_Ser258insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.*205_*240dup (n.*205_*240dup) c.326_361dup (p.Ile120_Ser121insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.209_244dup (p.Ile81_Ser82insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) | gnomAD v4 |
| 8 | g.27463607A= | CA1772814478 | CHRNA2 | c.836T= (p.Ile279=) c.*666T= (n.*666T=) c.791T= (p.Ile264=) n.290-1853T= c.770T= (p.Ile257=) c.*238T= (n.*238T=) c.359T= (p.Ile120=) c.242T= (p.Ile81=) | |
| 8 | g.27463607A>C | CA370810541 | CHRNA2 | c.836T>G (p.Ile279Ser) c.*666T>G (n.*666T>G) c.791T>G (p.Ile264Ser) n.290-1853T>G c.770T>G (p.Ile257Ser) c.*238T>G (n.*238T>G) c.359T>G (p.Ile120Ser) c.242T>G (p.Ile81Ser) | |
| 8 | g.27463607A>G | CA370810542 | CHRNA2 | c.836T>C (p.Ile279Thr) c.*666T>C (n.*666T>C) c.791T>C (p.Ile264Thr) n.290-1853T>C c.770T>C (p.Ile257Thr) c.*238T>C (n.*238T>C) c.359T>C (p.Ile120Thr) c.242T>C (p.Ile81Thr) | |
| 8 | g.27463607A>T | CA341466 | CHRNA2 | c.836T>A (p.Ile279Asn) c.*666T>A (n.*666T>A) c.791T>A (p.Ile264Asn) n.290-1853T>A c.770T>A (p.Ile257Asn) c.*238T>A (n.*238T>A) c.359T>A (p.Ile120Asn) c.242T>A (p.Ile81Asn) | ClinVar dbSNP |
| 8 | g.27463608T>A | CA370810548 | CHRNA2 | c.835A>T (p.Ile279Phe) c.*665A>T (n.*665A>T) c.790A>T (p.Ile264Phe) n.290-1854A>T c.769A>T (p.Ile257Phe) c.*237A>T (n.*237A>T) c.358A>T (p.Ile120Phe) c.241A>T (p.Ile81Phe) | |
| 8 | g.27463608T>C | CA370810546 | CHRNA2 | c.835A>G (p.Ile279Val) c.*665A>G (n.*665A>G) c.790A>G (p.Ile264Val) n.290-1854A>G c.769A>G (p.Ile257Val) c.*237A>G (n.*237A>G) c.358A>G (p.Ile120Val) c.241A>G (p.Ile81Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463608T>G | CA370810547 | CHRNA2 | c.835A>C (p.Ile279Leu) c.*665A>C (n.*665A>C) c.790A>C (p.Ile264Leu) n.290-1854A>C c.769A>C (p.Ile257Leu) c.*237A>C (n.*237A>C) c.358A>C (p.Ile120Leu) c.241A>C (p.Ile81Leu) | |
| 8 | g.27463608T= | CA1772814480 | CHRNA2 | c.835A= (p.Ile279=) c.*665A= (n.*665A=) c.790A= (p.Ile264=) n.290-1854A= c.769A= (p.Ile257=) c.*237A= (n.*237A=) c.358A= (p.Ile120=) c.241A= (p.Ile81=) | |
| 8 | g.27463609G>A | CA174242237 | CHRNA2 | c.834C>T (p.Leu278=) c.*664C>T (n.*664C>T) c.789C>T (p.Leu263=) n.290-1855C>T c.768C>T (p.Leu256=) c.*236C>T (n.*236C>T) c.357C>T (p.Leu119=) c.240C>T (p.Leu80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463609G>C | CA460186857 | CHRNA2 | c.834C>G (p.Leu278=) c.*664C>G (n.*664C>G) c.789C>G (p.Leu263=) n.290-1855C>G c.768C>G (p.Leu256=) c.*236C>G (n.*236C>G) c.357C>G (p.Leu119=) c.240C>G (p.Leu80=) | |
| 8 | g.27463609G= | CA1772814481 | CHRNA2 | c.834C= (p.Leu278=) c.*664C= (n.*664C=) c.789C= (p.Leu263=) n.290-1855C= c.768C= (p.Leu256=) c.*236C= (n.*236C=) c.357C= (p.Leu119=) c.240C= (p.Leu80=) | |
| 8 | g.27463609G>T | CA460186860 | CHRNA2 | c.834C>A (p.Leu278=) c.*664C>A (n.*664C>A) c.789C>A (p.Leu263=) n.290-1855C>A c.768C>A (p.Leu256=) c.*236C>A (n.*236C>A) c.357C>A (p.Leu119=) c.240C>A (p.Leu80=) | |
| 8 | g.27463610A>C | CA370810550 | CHRNA2 | c.833T>G (p.Leu278Arg) c.*663T>G (n.*663T>G) c.788T>G (p.Leu263Arg) n.290-1856T>G c.767T>G (p.Leu256Arg) c.*235T>G (n.*235T>G) c.356T>G (p.Leu119Arg) c.239T>G (p.Leu80Arg) | |
| 8 | g.27463610A>G | CA370810552 | CHRNA2 | c.833T>C (p.Leu278Pro) c.*663T>C (n.*663T>C) c.788T>C (p.Leu263Pro) n.290-1856T>C c.767T>C (p.Leu256Pro) c.*235T>C (n.*235T>C) c.356T>C (p.Leu119Pro) c.239T>C (p.Leu80Pro) | |
| 8 | g.27463610A>T | CA370810554 | CHRNA2 | c.833T>A (p.Leu278His) c.*663T>A (n.*663T>A) c.788T>A (p.Leu263His) n.290-1856T>A c.767T>A (p.Leu256His) c.*235T>A (n.*235T>A) c.356T>A (p.Leu119His) c.239T>A (p.Leu80His) | |
| 8 | g.27463611G>A | CA370810555 | CHRNA2 | c.832C>T (p.Leu278Phe) c.*662C>T (n.*662C>T) c.787C>T (p.Leu263Phe) n.290-1857C>T c.766C>T (p.Leu256Phe) c.*234C>T (n.*234C>T) c.355C>T (p.Leu119Phe) c.238C>T (p.Leu80Phe) | gnomAD v4 |
| 8 | g.27463611G>C | CA370810556 | CHRNA2 | c.832C>G (p.Leu278Val) c.*662C>G (n.*662C>G) c.787C>G (p.Leu263Val) n.290-1857C>G c.766C>G (p.Leu256Val) c.*234C>G (n.*234C>G) c.355C>G (p.Leu119Val) c.238C>G (p.Leu80Val) | |
| 8 | g.27463611G>T | CA370810557 | CHRNA2 | c.832C>A (p.Leu278Ile) c.*662C>A (n.*662C>A) c.787C>A (p.Leu263Ile) n.290-1857C>A c.766C>A (p.Leu256Ile) c.*234C>A (n.*234C>A) c.355C>A (p.Leu119Ile) c.238C>A (p.Leu80Ile) | |
| 8 | g.27463611dup | CA2686678234 | CHRNA2 | c.832dup (p.Leu278ProfsTer?) c.*662dup (n.*662dup) c.787dup (p.Leu263ProfsTer?) n.290-1857dup c.766dup (p.Leu256ProfsTer?) c.*234dup (n.*234dup) c.355dup (p.Leu119ProfsTer?) c.238dup (p.Leu80ProfsTer?) | gnomAD v4 |
| 8 | g.27463612C>A | CA460186072 | CHRNA2 | c.831G>T (p.Leu277=) c.*661G>T (n.*661G>T) c.786G>T (p.Leu262=) n.290-1858G>T c.765G>T (p.Leu255=) c.*233G>T (n.*233G>T) c.354G>T (p.Leu118=) c.237G>T (p.Leu79=) | |
| 8 | g.27463612C>G | CA460186074 | CHRNA2 | c.831G>C (p.Leu277=) c.*661G>C (n.*661G>C) c.786G>C (p.Leu262=) n.290-1858G>C c.765G>C (p.Leu255=) c.*233G>C (n.*233G>C) c.354G>C (p.Leu118=) c.237G>C (p.Leu79=) | |
| 8 | g.27463612C>T | CA460186075 | CHRNA2 | c.831G>A (p.Leu277=) c.*661G>A (n.*661G>A) c.786G>A (p.Leu262=) n.290-1858G>A c.765G>A (p.Leu255=) c.*233G>A (n.*233G>A) c.354G>A (p.Leu118=) c.237G>A (p.Leu79=) | gnomAD v4 |
| 8 | g.27463613A>C | CA370810559 | CHRNA2 | c.830T>G (p.Leu277Arg) c.*660T>G (n.*660T>G) c.785T>G (p.Leu262Arg) n.290-1859T>G c.764T>G (p.Leu255Arg) c.*232T>G (n.*232T>G) c.353T>G (p.Leu118Arg) c.236T>G (p.Leu79Arg) | |
| 8 | g.27463613A>G | CA370810561 | CHRNA2 | c.830T>C (p.Leu277Pro) c.*660T>C (n.*660T>C) c.785T>C (p.Leu262Pro) n.290-1859T>C c.764T>C (p.Leu255Pro) c.*232T>C (n.*232T>C) c.353T>C (p.Leu118Pro) c.236T>C (p.Leu79Pro) | |
| 8 | g.27463613A>T | CA370810562 | CHRNA2 | c.830T>A (p.Leu277Gln) c.*660T>A (n.*660T>A) c.785T>A (p.Leu262Gln) n.290-1859T>A c.764T>A (p.Leu255Gln) c.*232T>A (n.*232T>A) c.353T>A (p.Leu118Gln) c.236T>A (p.Leu79Gln) | |
| 8 | g.27463614G>A | CA460186081 | CHRNA2 | c.829C>T (p.Leu277=) c.*659C>T (n.*659C>T) c.784C>T (p.Leu262=) n.290-1860C>T c.763C>T (p.Leu255=) c.*231C>T (n.*231C>T) c.352C>T (p.Leu118=) c.235C>T (p.Leu79=) | gnomAD v4 |
| 8 | g.27463614G>C | CA370810563 | CHRNA2 | c.829C>G (p.Leu277Val) c.*659C>G (n.*659C>G) c.784C>G (p.Leu262Val) n.290-1860C>G c.763C>G (p.Leu255Val) c.*231C>G (n.*231C>G) c.352C>G (p.Leu118Val) c.235C>G (p.Leu79Val) | |
| 8 | g.27463614G>T | CA370810564 | CHRNA2 | c.829C>A (p.Leu277Met) c.*659C>A (n.*659C>A) c.784C>A (p.Leu262Met) n.290-1860C>A c.763C>A (p.Leu255Met) c.*231C>A (n.*231C>A) c.352C>A (p.Leu118Met) c.235C>A (p.Leu79Met) | |
| 8 | g.27463615G>A | CA460186082 | CHRNA2 | c.828C>T (p.Cys276=) c.*658C>T (n.*658C>T) c.783C>T (p.Cys261=) n.290-1861C>T c.762C>T (p.Cys254=) c.*230C>T (n.*230C>T) c.351C>T (p.Cys117=) c.234C>T (p.Cys78=) | |
| 8 | g.27463615G>C | CA370810567 | CHRNA2 | c.828C>G (p.Cys276Trp) c.*658C>G (n.*658C>G) c.783C>G (p.Cys261Trp) n.290-1861C>G c.762C>G (p.Cys254Trp) c.*230C>G (n.*230C>G) c.351C>G (p.Cys117Trp) c.234C>G (p.Cys78Trp) | |
| 8 | g.27463615G= | CA1772814482 | CHRNA2 | c.828C= (p.Cys276=) c.*658C= (n.*658C=) c.783C= (p.Cys261=) n.290-1861C= c.762C= (p.Cys254=) c.*230C= (n.*230C=) c.351C= (p.Cys117=) c.234C= (p.Cys78=) | |
| 8 | g.27463615G>T | CA370810566 | CHRNA2 | c.828C>A (p.Cys276Ter) c.*658C>A (n.*658C>A) c.783C>A (p.Cys261Ter) n.290-1861C>A c.762C>A (p.Cys254Ter) c.*230C>A (n.*230C>A) c.351C>A (p.Cys117Ter) c.234C>A (p.Cys78Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463616C>A | CA370810568 | CHRNA2 | c.827G>T (p.Cys276Phe) c.*657G>T (n.*657G>T) c.782G>T (p.Cys261Phe) n.290-1862G>T c.761G>T (p.Cys254Phe) c.*229G>T (n.*229G>T) c.350G>T (p.Cys117Phe) c.233G>T (p.Cys78Phe) | |
| 8 | g.27463616C>G | CA370810571 | CHRNA2 | c.827G>C (p.Cys276Ser) c.*657G>C (n.*657G>C) c.782G>C (p.Cys261Ser) n.290-1862G>C c.761G>C (p.Cys254Ser) c.*229G>C (n.*229G>C) c.350G>C (p.Cys117Ser) c.233G>C (p.Cys78Ser) | |
| 8 | g.27463616C>T | CA370810569 | CHRNA2 | c.827G>A (p.Cys276Tyr) c.*657G>A (n.*657G>A) c.782G>A (p.Cys261Tyr) n.290-1862G>A c.761G>A (p.Cys254Tyr) c.*229G>A (n.*229G>A) c.350G>A (p.Cys117Tyr) c.233G>A (p.Cys78Tyr) | |
| 8 | g.27463617A= | CA1772814483 | CHRNA2 | c.826T= (p.Cys276=) c.*656T= (n.*656T=) c.781T= (p.Cys261=) n.290-1863T= c.760T= (p.Cys254=) c.*228T= (n.*228T=) c.349T= (p.Cys117=) c.232T= (p.Cys78=) | |
| 8 | g.27463617A>C | CA370810572 | CHRNA2 | c.826T>G (p.Cys276Gly) c.*656T>G (n.*656T>G) c.781T>G (p.Cys261Gly) n.290-1863T>G c.760T>G (p.Cys254Gly) c.*228T>G (n.*228T>G) c.349T>G (p.Cys117Gly) c.232T>G (p.Cys78Gly) | |
| 8 | g.27463617A>G | CA370810576 | CHRNA2 | c.826T>C (p.Cys276Arg) c.*656T>C (n.*656T>C) c.781T>C (p.Cys261Arg) n.290-1863T>C c.760T>C (p.Cys254Arg) c.*228T>C (n.*228T>C) c.349T>C (p.Cys117Arg) c.232T>C (p.Cys78Arg) | gnomAD v4 |
| 8 | g.27463617A>T | CA370810574 | CHRNA2 | c.826T>A (p.Cys276Ser) c.*656T>A (n.*656T>A) c.781T>A (p.Cys261Ser) n.290-1863T>A c.760T>A (p.Cys254Ser) c.*228T>A (n.*228T>A) c.349T>A (p.Cys117Ser) c.232T>A (p.Cys78Ser) | |
| 8 | g.27463617dup | CA645550785 | CHRNA2 | c.826dup (p.Cys276LeufsTer?) c.*656dup (n.*656dup) c.781dup (p.Cys261LeufsTer?) n.290-1863dup c.760dup (p.Cys254LeufsTer?) c.*228dup (n.*228dup) c.349dup (p.Cys117LeufsTer?) c.232dup (p.Cys78LeufsTer?) | COSMIC |
| 8 | g.27463618G>A | CA460186088 | CHRNA2 | c.825C>T (p.Pro275=) c.*655C>T (n.*655C>T) c.780C>T (p.Pro260=) n.290-1864C>T c.759C>T (p.Pro253=) c.*227C>T (n.*227C>T) c.348C>T (p.Pro116=) c.231C>T (p.Pro77=) | gnomAD v4 |
| 8 | g.27463618G>C | CA460186089 | CHRNA2 | c.825C>G (p.Pro275=) c.*655C>G (n.*655C>G) c.780C>G (p.Pro260=) n.290-1864C>G c.759C>G (p.Pro253=) c.*227C>G (n.*227C>G) c.348C>G (p.Pro116=) c.231C>G (p.Pro77=) | |
| 8 | g.27463618G>T | CA460186090 | CHRNA2 | c.825C>A (p.Pro275=) c.*655C>A (n.*655C>A) c.780C>A (p.Pro260=) n.290-1864C>A c.759C>A (p.Pro253=) c.*227C>A (n.*227C>A) c.348C>A (p.Pro116=) c.231C>A (p.Pro77=) | |
| 8 | g.27463621dup | CA4689590 | CHRNA2 | c.825dup (p.Cys276LeufsTer?) c.*655dup (n.*655dup) c.780dup (p.Cys261LeufsTer?) n.290-1864dup c.759dup (p.Cys254LeufsTer?) c.*227dup (n.*227dup) c.348dup (p.Cys117LeufsTer?) c.231dup (p.Cys78LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463619G>A | CA370810577 | CHRNA2 | c.824C>T (p.Pro275Leu) c.*654C>T (n.*654C>T) c.779C>T (p.Pro260Leu) n.290-1865C>T c.758C>T (p.Pro253Leu) c.*226C>T (n.*226C>T) c.347C>T (p.Pro116Leu) c.230C>T (p.Pro77Leu) | ClinVar |
| 8 | g.27463619G>C | CA370810579 | CHRNA2 | c.824C>G (p.Pro275Arg) c.*654C>G (n.*654C>G) c.779C>G (p.Pro260Arg) n.290-1865C>G c.758C>G (p.Pro253Arg) c.*226C>G (n.*226C>G) c.347C>G (p.Pro116Arg) c.230C>G (p.Pro77Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463619G= | CA1772814484 | CHRNA2 | c.824C= (p.Pro275=) c.*654C= (n.*654C=) c.779C= (p.Pro260=) n.290-1865C= c.758C= (p.Pro253=) c.*226C= (n.*226C=) c.347C= (p.Pro116=) c.230C= (p.Pro77=) | |
| 8 | g.27463619G>T | CA370810580 | CHRNA2 | c.824C>A (p.Pro275His) c.*654C>A (n.*654C>A) c.779C>A (p.Pro260His) n.290-1865C>A c.758C>A (p.Pro253His) c.*226C>A (n.*226C>A) c.347C>A (p.Pro116His) c.230C>A (p.Pro77His) |