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 |
|---|---|---|---|---|---|
| 1 | g.161222433T>A | CA343320405 | APOA2 | c.275A>T (p.Glu92Val) c.131A>T (p.Glu44Val) c.374A>T (p.Glu125Val) c.221A>T (p.Glu74Val) n.786A>T c.*272A>T (n.*272A>T) c.*58A>T (n.*58A>T) | |
| 1 | g.161222433T>C | CA343320407 | APOA2 | c.275A>G (p.Glu92Gly) c.131A>G (p.Glu44Gly) c.374A>G (p.Glu125Gly) c.221A>G (p.Glu74Gly) n.786A>G c.*272A>G (n.*272A>G) c.*58A>G (n.*58A>G) | |
| 1 | g.161222433T>G | CA343320409 | APOA2 | c.275A>C (p.Glu92Ala) c.131A>C (p.Glu44Ala) c.374A>C (p.Glu125Ala) c.221A>C (p.Glu74Ala) n.786A>C c.*272A>C (n.*272A>C) c.*58A>C (n.*58A>C) | |
| 1 | g.161222434C>A | CA343320413 | APOA2 | c.274G>T (p.Glu92Ter) c.130G>T (p.Glu44Ter) c.373G>T (p.Glu125Ter) c.220G>T (p.Glu74Ter) n.785G>T c.*271G>T (n.*271G>T) c.*57G>T (n.*57G>T) | |
| 1 | g.161222434C>G | CA343320411 | APOA2 | c.274G>C (p.Glu92Gln) c.130G>C (p.Glu44Gln) c.373G>C (p.Glu125Gln) c.220G>C (p.Glu74Gln) n.785G>C c.*271G>C (n.*271G>C) c.*57G>C (n.*57G>C) | |
| 1 | g.161222434C>T | CA343320410 | APOA2 | c.274G>A (p.Glu92Lys) c.130G>A (p.Glu44Lys) c.373G>A (p.Glu125Lys) c.220G>A (p.Glu74Lys) n.785G>A c.*271G>A (n.*271G>A) c.*57G>A (n.*57G>A) | |
| 1 | g.161222435C>A | CA421401107 | APOA2 | c.273G>T (p.Val91=) c.129G>T (p.Val43=) c.372G>T (p.Val124=) c.219G>T (p.Val73=) n.784G>T c.*270G>T (n.*270G>T) c.*56G>T (n.*56G>T) | |
| 1 | g.161222435C>G | CA421401109 | APOA2 | c.273G>C (p.Val91=) c.129G>C (p.Val43=) c.372G>C (p.Val124=) c.219G>C (p.Val73=) n.784G>C c.*270G>C (n.*270G>C) c.*56G>C (n.*56G>C) | |
| 1 | g.161222435C>T | CA421401114 | APOA2 | c.273G>A (p.Val91=) c.129G>A (p.Val43=) c.372G>A (p.Val124=) c.219G>A (p.Val73=) n.784G>A c.*270G>A (n.*270G>A) c.*56G>A (n.*56G>A) | |
| 1 | g.161222436A>C | CA343320415 | APOA2 | c.272T>G (p.Val91Gly) c.128T>G (p.Val43Gly) c.371T>G (p.Val124Gly) c.218T>G (p.Val73Gly) n.783T>G c.*269T>G (n.*269T>G) c.*55T>G (n.*55T>G) | |
| 1 | g.161222436A>G | CA343320417 | APOA2 | c.272T>C (p.Val91Ala) c.128T>C (p.Val43Ala) c.371T>C (p.Val124Ala) c.218T>C (p.Val73Ala) n.783T>C c.*269T>C (n.*269T>C) c.*55T>C (n.*55T>C) | |
| 1 | g.161222436A>T | CA343320418 | APOA2 | c.272T>A (p.Val91Glu) c.128T>A (p.Val43Glu) c.371T>A (p.Val124Glu) c.218T>A (p.Val73Glu) n.783T>A c.*269T>A (n.*269T>A) c.*55T>A (n.*55T>A) | |
| 1 | g.161222437C>A | CA343320420 | APOA2 | c.271G>T (p.Val91Leu) c.127G>T (p.Val43Leu) c.370G>T (p.Val124Leu) c.217G>T (p.Val73Leu) n.782G>T c.*268G>T (n.*268G>T) c.*54G>T (n.*54G>T) | dbSNP |
| 1 | g.161222437C= | CA1141650776 | APOA2 | c.271G= (p.Val91=) c.127G= (p.Val43=) c.370G= (p.Val124=) c.217G= (p.Val73=) n.782G= c.*268G= (n.*268G=) c.*54G= (n.*54G=) | |
| 1 | g.161222437C>G | CA343320422 | APOA2 | c.271G>C (p.Val91Leu) c.127G>C (p.Val43Leu) c.370G>C (p.Val124Leu) c.217G>C (p.Val73Leu) n.782G>C c.*268G>C (n.*268G>C) c.*54G>C (n.*54G>C) | |
| 1 | g.161222437C>T | CA31634161 | APOA2 | c.271G>A (p.Val91Met) c.127G>A (p.Val43Met) c.370G>A (p.Val124Met) c.217G>A (p.Val73Met) n.782G>A c.*268G>A (n.*268G>A) c.*54G>A (n.*54G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161222438G>A | CA1209090 | APOA2 | c.270C>T (p.Phe90=) c.126C>T (p.Phe42=) c.369C>T (p.Phe123=) c.216C>T (p.Phe72=) n.781C>T c.*267C>T (n.*267C>T) c.*53C>T (n.*53C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.161222438G>C | CA343320424 | APOA2 | c.270C>G (p.Phe90Leu) c.126C>G (p.Phe42Leu) c.369C>G (p.Phe123Leu) c.216C>G (p.Phe72Leu) n.781C>G c.*267C>G (n.*267C>G) c.*53C>G (n.*53C>G) | |
| 1 | g.161222438G= | CA1202652317 | APOA2 | c.270C= (p.Phe90=) c.126C= (p.Phe42=) c.369C= (p.Phe123=) c.216C= (p.Phe72=) n.781C= c.*267C= (n.*267C=) c.*53C= (n.*53C=) | |
| 1 | g.161222438G>T | CA343320426 | APOA2 | c.270C>A (p.Phe90Leu) c.126C>A (p.Phe42Leu) c.369C>A (p.Phe123Leu) c.216C>A (p.Phe72Leu) n.781C>A c.*267C>A (n.*267C>A) c.*53C>A (n.*53C>A) | |
| 1 | g.161222439A>C | CA343320428 | APOA2 | c.269T>G (p.Phe90Cys) c.125T>G (p.Phe42Cys) c.368T>G (p.Phe123Cys) c.215T>G (p.Phe72Cys) n.780T>G c.*266T>G (n.*266T>G) c.*52T>G (n.*52T>G) | |
| 1 | g.161222439A>G | CA343320429 | APOA2 | c.269T>C (p.Phe90Ser) c.125T>C (p.Phe42Ser) c.368T>C (p.Phe123Ser) c.215T>C (p.Phe72Ser) n.780T>C c.*266T>C (n.*266T>C) c.*52T>C (n.*52T>C) | |
| 1 | g.161222439A>T | CA343320431 | APOA2 | c.269T>A (p.Phe90Tyr) c.125T>A (p.Phe42Tyr) c.368T>A (p.Phe123Tyr) c.215T>A (p.Phe72Tyr) n.780T>A c.*266T>A (n.*266T>A) c.*52T>A (n.*52T>A) | |
| 1 | g.161222440A>C | CA343320435 | APOA2 | c.268T>G (p.Phe90Val) c.124T>G (p.Phe42Val) c.367T>G (p.Phe123Val) c.214T>G (p.Phe72Val) n.779T>G c.*265T>G (n.*265T>G) c.*51T>G (n.*51T>G) | |
| 1 | g.161222440A>G | CA343320434 | APOA2 | c.268T>C (p.Phe90Leu) c.124T>C (p.Phe42Leu) c.367T>C (p.Phe123Leu) c.214T>C (p.Phe72Leu) n.779T>C c.*265T>C (n.*265T>C) c.*51T>C (n.*51T>C) | |
| 1 | g.161222440A>T | CA343320433 | APOA2 | c.268T>A (p.Phe90Ile) c.124T>A (p.Phe42Ile) c.367T>A (p.Phe123Ile) c.214T>A (p.Phe72Ile) n.779T>A c.*265T>A (n.*265T>A) c.*51T>A (n.*51T>A) | |
| 1 | g.161222441A>C | CA343320436 | APOA2 | c.267T>G (p.Tyr89Ter) c.123T>G (p.Tyr41Ter) c.366T>G (p.Tyr122Ter) c.213T>G (p.Tyr71Ter) n.778T>G c.*264T>G (n.*264T>G) c.*50T>G (n.*50T>G) | |
| 1 | g.161222441A>G | CA421401165 | APOA2 | c.267T>C (p.Tyr89=) c.123T>C (p.Tyr41=) c.366T>C (p.Tyr122=) c.213T>C (p.Tyr71=) n.778T>C c.*264T>C (n.*264T>C) c.*50T>C (n.*50T>C) | |
| 1 | g.161222441A>T | CA343320438 | APOA2 | c.267T>A (p.Tyr89Ter) c.123T>A (p.Tyr41Ter) c.366T>A (p.Tyr122Ter) c.213T>A (p.Tyr71Ter) n.778T>A c.*264T>A (n.*264T>A) c.*50T>A (n.*50T>A) | gnomAD v4 |
| 1 | g.161222442T>A | CA343320440 | APOA2 | c.266A>T (p.Tyr89Phe) c.122A>T (p.Tyr41Phe) c.365A>T (p.Tyr122Phe) c.212A>T (p.Tyr71Phe) n.777A>T c.*263A>T (n.*263A>T) c.*49A>T (n.*49A>T) | |
| 1 | g.161222442T>C | CA343320443 | APOA2 | c.266A>G (p.Tyr89Cys) c.122A>G (p.Tyr41Cys) c.365A>G (p.Tyr122Cys) c.212A>G (p.Tyr71Cys) n.777A>G c.*263A>G (n.*263A>G) c.*49A>G (n.*49A>G) | |
| 1 | g.161222442T>G | CA343320441 | APOA2 | c.266A>C (p.Tyr89Ser) c.122A>C (p.Tyr41Ser) c.365A>C (p.Tyr122Ser) c.212A>C (p.Tyr71Ser) n.777A>C c.*263A>C (n.*263A>C) c.*49A>C (n.*49A>C) | |
| 1 | g.161222443A= | CA1202652318 | APOA2 | c.265T= (p.Tyr89=) c.121T= (p.Tyr41=) c.364T= (p.Tyr122=) c.211T= (p.Tyr71=) n.776T= c.*262T= (n.*262T=) c.*48T= (n.*48T=) | |
| 1 | g.161222443A>C | CA343320445 | APOA2 | c.265T>G (p.Tyr89Asp) c.121T>G (p.Tyr41Asp) c.364T>G (p.Tyr122Asp) c.211T>G (p.Tyr71Asp) n.776T>G c.*262T>G (n.*262T>G) c.*48T>G (n.*48T>G) | |
| 1 | g.161222443A>G | CA343320447 | APOA2 | c.265T>C (p.Tyr89His) c.121T>C (p.Tyr41His) c.364T>C (p.Tyr122His) c.211T>C (p.Tyr71His) n.776T>C c.*262T>C (n.*262T>C) c.*48T>C (n.*48T>C) | |
| 1 | g.161222443A>T | CA343320448 | APOA2 | c.265T>A (p.Tyr89Asn) c.121T>A (p.Tyr41Asn) c.364T>A (p.Tyr122Asn) c.211T>A (p.Tyr71Asn) n.776T>A c.*262T>A (n.*262T>A) c.*48T>A (n.*48T>A) | dbSNP |
| 1 | g.161222444G>A | CA421401194 | APOA2 | c.264C>T (p.Ser88=) c.120C>T (p.Ser40=) c.363C>T (p.Ser121=) c.210C>T (p.Ser70=) n.775C>T c.*261C>T (n.*261C>T) c.*47C>T (n.*47C>T) | |
| 1 | g.161222444G>C | CA343320449 | APOA2 | c.264C>G (p.Ser88Arg) c.120C>G (p.Ser40Arg) c.363C>G (p.Ser121Arg) c.210C>G (p.Ser70Arg) n.775C>G c.*261C>G (n.*261C>G) c.*47C>G (n.*47C>G) | |
| 1 | g.161222444G>T | CA343320451 | APOA2 | c.264C>A (p.Ser88Arg) c.120C>A (p.Ser40Arg) c.363C>A (p.Ser121Arg) c.210C>A (p.Ser70Arg) n.775C>A c.*261C>A (n.*261C>A) c.*47C>A (n.*47C>A) | |
| 1 | g.161222445C>A | CA343320453 | APOA2 | c.263G>T (p.Ser88Ile) c.119G>T (p.Ser40Ile) c.362G>T (p.Ser121Ile) c.209G>T (p.Ser70Ile) n.774G>T c.*260G>T (n.*260G>T) c.*46G>T (n.*46G>T) | |
| 1 | g.161222445C>G | CA343320455 | APOA2 | c.263G>C (p.Ser88Thr) c.119G>C (p.Ser40Thr) c.362G>C (p.Ser121Thr) c.209G>C (p.Ser70Thr) n.774G>C c.*260G>C (n.*260G>C) c.*46G>C (n.*46G>C) | |
| 1 | g.161222445C>T | CA343320456 | APOA2 | c.263G>A (p.Ser88Asn) c.119G>A (p.Ser40Asn) c.362G>A (p.Ser121Asn) c.209G>A (p.Ser70Asn) n.774G>A c.*260G>A (n.*260G>A) c.*46G>A (n.*46G>A) | |
| 1 | g.161222445_161222446delinsCT | CA1202652319 | APOA2 | c.262_263delinsAG (p.Ser88=) c.118_119delinsAG (p.Ser40=) c.361_362delinsAG (p.Ser121=) c.208_209delinsAG (p.Ser70=) n.773_774delinsAG c.*259_*260delinsAG (n.*259_*260delinsAG) c.*45_*46delinsAG (n.*45_*46delinsAG) | |
| 1 | g.161222446del | CA421401211 | APOA2 | c.262del (p.Ser88AlafsTer?) c.118del (p.Ser40AlafsTer?) c.361del (p.Ser121AlafsTer?) c.208del (p.Ser70AlafsTer?) n.773del c.*259del (n.*259del) c.*45del (n.*45del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161222446T>A | CA343320457 | APOA2 | c.262A>T (p.Ser88Cys) c.118A>T (p.Ser40Cys) c.361A>T (p.Ser121Cys) c.208A>T (p.Ser70Cys) n.773A>T c.*259A>T (n.*259A>T) c.*45A>T (n.*45A>T) | |
| 1 | g.161222446T>C | CA343320459 | APOA2 | c.262A>G (p.Ser88Gly) c.118A>G (p.Ser40Gly) c.361A>G (p.Ser121Gly) c.208A>G (p.Ser70Gly) n.773A>G c.*259A>G (n.*259A>G) c.*45A>G (n.*45A>G) | |
| 1 | g.161222446T>G | CA343320461 | APOA2 | c.262A>C (p.Ser88Arg) c.118A>C (p.Ser40Arg) c.361A>C (p.Ser121Arg) c.208A>C (p.Ser70Arg) n.773A>C c.*259A>C (n.*259A>C) c.*45A>C (n.*45A>C) | |
| 1 | g.161222446T= | CA1202652320 | APOA2 | c.262A= (p.Ser88=) c.118A= (p.Ser40=) c.361A= (p.Ser121=) c.208A= (p.Ser70=) n.773A= c.*259A= (n.*259A=) c.*45A= (n.*45A=) | |
| 1 | g.161222446_161222447insACAATAAATG | CA1202652322 | APOA2 | c.261_262insCATTTATTGT (p.Ser88HisfsTer4) c.117_118insCATTTATTGT (p.Ser40HisfsTer4) c.360_361insCATTTATTGT (p.Ser121HisfsTer4) c.207_208insCATTTATTGT (p.Ser70HisfsTer4) n.772_773insCATTTATTGT c.*258_*259insCATTTATTGT (n.*258_*259insCATTTATTGT) c.*44_*45insCATTTATTGT (n.*44_*45insCATTTATTGT) | dbSNP |
| 1 | g.161222447del | CA343320465 | APOA2 | c.261del (p.Ser88AlafsTer?) c.117del (p.Ser40AlafsTer?) c.360del (p.Ser121AlafsTer?) c.207del (p.Ser70AlafsTer?) n.772del c.*258del (n.*258del) c.*44del (n.*44del) |