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 |
|---|---|---|---|---|---|
| 21 | g.44901546G>A | CA512551685 | ITGB2 | c.687C>T (p.Asn229=) c.660C>T (p.Asn220=) c.516C>T (p.Asn172=) n.830C>T c.*514C>T (n.*514C>T) c.480C>T (p.Asn160=) | |
| 21 | g.44901546G>C | CA410476066 | ITGB2 | c.687C>G (p.Asn229Lys) c.660C>G (p.Asn220Lys) c.516C>G (p.Asn172Lys) n.830C>G c.*514C>G (n.*514C>G) c.480C>G (p.Asn160Lys) | |
| 21 | g.44901546G>T | CA410476067 | ITGB2 | c.687C>A (p.Asn229Lys) c.660C>A (p.Asn220Lys) c.516C>A (p.Asn172Lys) n.830C>A c.*514C>A (n.*514C>A) c.480C>A (p.Asn160Lys) | |
| 21 | g.44901547T>A | CA410476068 | ITGB2 | c.686A>T (p.Asn229Ile) c.659A>T (p.Asn220Ile) c.515A>T (p.Asn172Ile) n.829A>T c.*513A>T (n.*513A>T) c.479A>T (p.Asn160Ile) | |
| 21 | g.44901547T>C | CA410476069 | ITGB2 | c.686A>G (p.Asn229Ser) c.659A>G (p.Asn220Ser) c.515A>G (p.Asn172Ser) n.829A>G c.*513A>G (n.*513A>G) c.479A>G (p.Asn160Ser) | dbSNP |
| 21 | g.44901547T>G | CA410476070 | ITGB2 | c.686A>C (p.Asn229Thr) c.659A>C (p.Asn220Thr) c.515A>C (p.Asn172Thr) n.829A>C c.*513A>C (n.*513A>C) c.479A>C (p.Asn160Thr) | |
| 21 | g.44901547T= | CA2391880202 | ITGB2 | c.686A= (p.Asn229=) c.659A= (p.Asn220=) c.515A= (p.Asn172=) n.829A= c.*513A= (n.*513A=) c.479A= (p.Asn160=) | |
| 21 | g.44901548T>A | CA410476071 | ITGB2 | c.685A>T (p.Asn229Tyr) c.658A>T (p.Asn220Tyr) c.514A>T (p.Asn172Tyr) n.828A>T c.*512A>T (n.*512A>T) c.478A>T (p.Asn160Tyr) | |
| 21 | g.44901548T>C | CA410476072 | ITGB2 | c.685A>G (p.Asn229Asp) c.658A>G (p.Asn220Asp) c.514A>G (p.Asn172Asp) n.828A>G c.*512A>G (n.*512A>G) c.478A>G (p.Asn160Asp) | |
| 21 | g.44901548T>G | CA410476073 | ITGB2 | c.685A>C (p.Asn229His) c.658A>C (p.Asn220His) c.514A>C (p.Asn172His) n.828A>C c.*512A>C (n.*512A>C) c.478A>C (p.Asn160His) | |
| 21 | g.44901549T>A | CA512551686 | ITGB2 | c.684A>T (p.Gly228=) c.657A>T (p.Gly219=) c.513A>T (p.Gly171=) n.827A>T c.*511A>T (n.*511A>T) c.477A>T (p.Gly159=) | |
| 21 | g.44901549T>C | CA512551687 | ITGB2 | c.684A>G (p.Gly228=) c.657A>G (p.Gly219=) c.513A>G (p.Gly171=) n.827A>G c.*511A>G (n.*511A>G) c.477A>G (p.Gly159=) | |
| 21 | g.44901549T>G | CA512551688 | ITGB2 | c.684A>C (p.Gly228=) c.657A>C (p.Gly219=) c.513A>C (p.Gly171=) n.827A>C c.*511A>C (n.*511A>C) c.477A>C (p.Gly159=) | |
| 21 | g.44901550C>A | CA410476074 | ITGB2 | c.683G>T (p.Gly228Val) c.656G>T (p.Gly219Val) c.512G>T (p.Gly171Val) n.826G>T c.*510G>T (n.*510G>T) c.476G>T (p.Gly159Val) | |
| 21 | g.44901550C= | CA2391880203 | ITGB2 | c.683G= (p.Gly228=) c.656G= (p.Gly219=) c.512G= (p.Gly171=) n.826G= c.*510G= (n.*510G=) c.476G= (p.Gly159=) | |
| 21 | g.44901550C>G | CA321851387 | ITGB2 | c.683G>C (p.Gly228Ala) c.656G>C (p.Gly219Ala) c.512G>C (p.Gly171Ala) n.826G>C c.*510G>C (n.*510G>C) c.476G>C (p.Gly159Ala) | dbSNP |
| 21 | g.44901550C>T | CA410476075 | ITGB2 | c.683G>A (p.Gly228Glu) c.656G>A (p.Gly219Glu) c.512G>A (p.Gly171Glu) n.826G>A c.*510G>A (n.*510G>A) c.476G>A (p.Gly159Glu) | |
| 21 | g.44901551C>A | CA410476076 | ITGB2 | c.682G>T (p.Gly228Ter) c.655G>T (p.Gly219Ter) c.511G>T (p.Gly171Ter) n.825G>T n.563G>T c.*509G>T (n.*509G>T) c.475G>T (p.Gly159Ter) | |
| 21 | g.44901551C= | CA2391880204 | ITGB2 | c.682G= (p.Gly228=) c.655G= (p.Gly219=) c.511G= (p.Gly171=) n.825G= n.563G= c.*509G= (n.*509G=) c.475G= (p.Gly159=) | |
| 21 | g.44901551C>G | CA410476077 | ITGB2 | c.682G>C (p.Gly228Arg) c.655G>C (p.Gly219Arg) c.511G>C (p.Gly171Arg) n.825G>C n.563G>C c.*509G>C (n.*509G>C) c.475G>C (p.Gly159Arg) | |
| 21 | g.44901551C>T | CA410476078 | ITGB2 | c.682G>A (p.Gly228Arg) c.655G>A (p.Gly219Arg) c.511G>A (p.Gly171Arg) n.825G>A n.563G>A c.*509G>A (n.*509G>A) c.475G>A (p.Gly159Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44901552G>A | CA10063132 | ITGB2 | c.681C>T (p.Ser227=) c.654C>T (p.Ser218=) c.510C>T (p.Ser170=) n.824C>T n.562C>T c.*508C>T (n.*508C>T) c.474C>T (p.Ser158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901552G>C | CA512551690 | ITGB2 | c.681C>G (p.Ser227=) c.654C>G (p.Ser218=) c.510C>G (p.Ser170=) n.824C>G n.562C>G c.*508C>G (n.*508C>G) c.474C>G (p.Ser158=) | |
| 21 | g.44901552G= | CA2391880205 | ITGB2 | c.681C= (p.Ser227=) c.654C= (p.Ser218=) c.510C= (p.Ser170=) n.824C= n.562C= c.*508C= (n.*508C=) c.474C= (p.Ser158=) | |
| 21 | g.44901552G>T | CA512551689 | ITGB2 | c.681C>A (p.Ser227=) c.654C>A (p.Ser218=) c.510C>A (p.Ser170=) n.824C>A n.562C>A c.*508C>A (n.*508C>A) c.474C>A (p.Ser158=) | |
| 21 | g.44901553G>A | CA10063133 | ITGB2 | c.680C>T (p.Ser227Phe) c.653C>T (p.Ser218Phe) c.509C>T (p.Ser170Phe) n.823C>T n.561C>T c.*507C>T (n.*507C>T) c.473C>T (p.Ser158Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901553G>C | CA410476079 | ITGB2 | c.680C>G (p.Ser227Cys) c.653C>G (p.Ser218Cys) c.509C>G (p.Ser170Cys) n.823C>G n.561C>G c.*507C>G (n.*507C>G) c.473C>G (p.Ser158Cys) | |
| 21 | g.44901553G= | CA2391880206 | ITGB2 | c.680C= (p.Ser227=) c.653C= (p.Ser218=) c.509C= (p.Ser170=) n.823C= n.561C= c.*507C= (n.*507C=) c.473C= (p.Ser158=) | |
| 21 | g.44901553G>T | CA410476080 | ITGB2 | c.680C>A (p.Ser227Tyr) c.653C>A (p.Ser218Tyr) c.509C>A (p.Ser170Tyr) n.823C>A n.561C>A c.*507C>A (n.*507C>A) c.473C>A (p.Ser158Tyr) | |
| 21 | g.44901554A>C | CA410476081 | ITGB2 | c.679T>G (p.Ser227Ala) c.652T>G (p.Ser218Ala) c.508T>G (p.Ser170Ala) n.822T>G n.560T>G c.*506T>G (n.*506T>G) c.472T>G (p.Ser158Ala) | |
| 21 | g.44901554A>G | CA410476082 | ITGB2 | c.679T>C (p.Ser227Pro) c.652T>C (p.Ser218Pro) c.508T>C (p.Ser170Pro) n.822T>C n.560T>C c.*506T>C (n.*506T>C) c.472T>C (p.Ser158Pro) | |
| 21 | g.44901554A>T | CA410476083 | ITGB2 | c.679T>A (p.Ser227Thr) c.652T>A (p.Ser218Thr) c.508T>A (p.Ser170Thr) n.822T>A n.560T>A c.*506T>A (n.*506T>A) c.472T>A (p.Ser158Thr) | |
| 21 | g.44901555A>C | CA410476084 | ITGB2 | c.678T>G (p.Ile226Met) c.651T>G (p.Ile217Met) c.507T>G (p.Ile169Met) n.821T>G n.559T>G c.*505T>G (n.*505T>G) c.471T>G (p.Ile157Met) | |
| 21 | g.44901555A>G | CA512551691 | ITGB2 | c.678T>C (p.Ile226=) c.651T>C (p.Ile217=) c.507T>C (p.Ile169=) n.821T>C n.559T>C c.*505T>C (n.*505T>C) c.471T>C (p.Ile157=) | |
| 21 | g.44901555A>T | CA512551692 | ITGB2 | c.678T>A (p.Ile226=) c.651T>A (p.Ile217=) c.507T>A (p.Ile169=) n.821T>A n.559T>A c.*505T>A (n.*505T>A) c.471T>A (p.Ile157=) | |
| 21 | g.44901556A>C | CA410476085 | ITGB2 | c.677T>G (p.Ile226Ser) c.650T>G (p.Ile217Ser) c.506T>G (p.Ile169Ser) n.820T>G n.558T>G c.*504T>G (n.*504T>G) c.470T>G (p.Ile157Ser) | |
| 21 | g.44901556A>G | CA410476086 | ITGB2 | c.677T>C (p.Ile226Thr) c.650T>C (p.Ile217Thr) c.506T>C (p.Ile169Thr) n.820T>C n.558T>C c.*504T>C (n.*504T>C) c.470T>C (p.Ile157Thr) | |
| 21 | g.44901556A>T | CA410476087 | ITGB2 | c.677T>A (p.Ile226Asn) c.650T>A (p.Ile217Asn) c.506T>A (p.Ile169Asn) n.820T>A n.558T>A c.*504T>A (n.*504T>A) c.470T>A (p.Ile157Asn) | |
| 21 | g.44901557T>A | CA410476088 | ITGB2 | c.676A>T (p.Ile226Phe) c.649A>T (p.Ile217Phe) c.505A>T (p.Ile169Phe) n.819A>T n.557A>T c.*503A>T (n.*503A>T) c.469A>T (p.Ile157Phe) | |
| 21 | g.44901557T>C | CA410476089 | ITGB2 | c.676A>G (p.Ile226Val) c.649A>G (p.Ile217Val) c.505A>G (p.Ile169Val) n.819A>G n.557A>G c.*503A>G (n.*503A>G) c.469A>G (p.Ile157Val) | gnomAD v4 |
| 21 | g.44901557T>G | CA410476090 | ITGB2 | c.676A>C (p.Ile226Leu) c.649A>C (p.Ile217Leu) c.505A>C (p.Ile169Leu) n.819A>C n.557A>C c.*503A>C (n.*503A>C) c.469A>C (p.Ile157Leu) | |
| 21 | g.44901558C>A | CA512551693 | ITGB2 | c.675G>T (p.Leu225=) c.648G>T (p.Leu216=) c.504G>T (p.Leu168=) n.818G>T n.556G>T c.*502G>T (n.*502G>T) c.468G>T (p.Leu156=) | |
| 21 | g.44901558C>G | CA512551694 | ITGB2 | c.675G>C (p.Leu225=) c.648G>C (p.Leu216=) c.504G>C (p.Leu168=) n.818G>C n.556G>C c.*502G>C (n.*502G>C) c.468G>C (p.Leu156=) | |
| 21 | g.44901558C>T | CA512551695 | ITGB2 | c.675G>A (p.Leu225=) c.648G>A (p.Leu216=) c.504G>A (p.Leu168=) n.818G>A n.556G>A c.*502G>A (n.*502G>A) c.468G>A (p.Leu156=) | gnomAD v4 |
| 21 | g.44901559A>C | CA410476091 | ITGB2 | c.674T>G (p.Leu225Arg) c.647T>G (p.Leu216Arg) c.503T>G (p.Leu168Arg) n.817T>G n.555T>G c.*501T>G (n.*501T>G) c.467T>G (p.Leu156Arg) | |
| 21 | g.44901559A>G | CA410476093 | ITGB2 | c.674T>C (p.Leu225Pro) c.647T>C (p.Leu216Pro) c.503T>C (p.Leu168Pro) n.817T>C n.555T>C c.*501T>C (n.*501T>C) c.467T>C (p.Leu156Pro) | |
| 21 | g.44901559A>T | CA410476092 | ITGB2 | c.674T>A (p.Leu225Gln) c.647T>A (p.Leu216Gln) c.503T>A (p.Leu168Gln) n.817T>A n.555T>A c.*501T>A (n.*501T>A) c.467T>A (p.Leu156Gln) | |
| 21 | g.44901560G>A | CA512551696 | ITGB2 | c.673C>T (p.Leu225=) c.646C>T (p.Leu216=) c.502C>T (p.Leu168=) n.816C>T n.554C>T c.*500C>T (n.*500C>T) c.466C>T (p.Leu156=) | |
| 21 | g.44901560G>C | CA410476094 | ITGB2 | c.673C>G (p.Leu225Val) c.646C>G (p.Leu216Val) c.502C>G (p.Leu168Val) n.816C>G n.554C>G c.*500C>G (n.*500C>G) c.466C>G (p.Leu156Val) | |
| 21 | g.44901560G>T | CA410476095 | ITGB2 | c.673C>A (p.Leu225Met) c.646C>A (p.Leu216Met) c.502C>A (p.Leu168Met) n.816C>A n.554C>A c.*500C>A (n.*500C>A) c.466C>A (p.Leu156Met) |