UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44901527C>A | CA410476025 | ITGB2 | c.706G>T (p.Gly236Trp) c.679G>T (p.Gly227Trp) c.535G>T (p.Gly179Trp) n.849G>T c.*533G>T (n.*533G>T) c.499G>T (p.Gly167Trp) | |
| 21 | g.44901527C= | CA2391880194 | ITGB2 | c.706G= (p.Gly236=) c.679G= (p.Gly227=) c.535G= (p.Gly179=) n.849G= c.*533G= (n.*533G=) c.499G= (p.Gly167=) | |
| 21 | g.44901527C>G | CA410476026 | ITGB2 | c.706G>C (p.Gly236Arg) c.679G>C (p.Gly227Arg) c.535G>C (p.Gly179Arg) n.849G>C c.*533G>C (n.*533G>C) c.499G>C (p.Gly167Arg) | |
| 21 | g.44901527C>T | CA249775 | ITGB2 | c.706G>A (p.Gly236Arg) c.679G>A (p.Gly227Arg) c.535G>A (p.Gly179Arg) n.849G>A c.*533G>A (n.*533G>A) c.499G>A (p.Gly167Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44901528A>C | CA512551674 | ITGB2 | c.705T>G (p.Gly235=) c.678T>G (p.Gly226=) c.534T>G (p.Gly178=) n.848T>G c.*532T>G (n.*532T>G) c.498T>G (p.Gly166=) | |
| 21 | g.44901528A>G | CA512551675 | ITGB2 | c.705T>C (p.Gly235=) c.678T>C (p.Gly226=) c.534T>C (p.Gly178=) n.848T>C c.*532T>C (n.*532T>C) c.498T>C (p.Gly166=) | gnomAD v4 |
| 21 | g.44901528A>T | CA512551676 | ITGB2 | c.705T>A (p.Gly235=) c.678T>A (p.Gly226=) c.534T>A (p.Gly178=) n.848T>A c.*532T>A (n.*532T>A) c.498T>A (p.Gly166=) | |
| 21 | g.44901529C>A | CA410476027 | ITGB2 | c.704G>T (p.Gly235Val) c.677G>T (p.Gly226Val) c.533G>T (p.Gly178Val) n.847G>T c.*531G>T (n.*531G>T) c.497G>T (p.Gly166Val) | |
| 21 | g.44901529C>G | CA410476029 | ITGB2 | c.704G>C (p.Gly235Ala) c.677G>C (p.Gly226Ala) c.533G>C (p.Gly178Ala) n.847G>C c.*531G>C (n.*531G>C) c.497G>C (p.Gly166Ala) | |
| 21 | g.44901529C>T | CA410476028 | ITGB2 | c.704G>A (p.Gly235Asp) c.677G>A (p.Gly226Asp) c.533G>A (p.Gly178Asp) n.847G>A c.*531G>A (n.*531G>A) c.497G>A (p.Gly166Asp) | |
| 21 | g.44901530C>A | CA410476030 | ITGB2 | c.703G>T (p.Gly235Cys) c.676G>T (p.Gly226Cys) c.532G>T (p.Gly178Cys) n.846G>T c.*530G>T (n.*530G>T) c.496G>T (p.Gly166Cys) | |
| 21 | g.44901530C>G | CA410476031 | ITGB2 | c.703G>C (p.Gly235Arg) c.676G>C (p.Gly226Arg) c.532G>C (p.Gly178Arg) n.846G>C c.*530G>C (n.*530G>C) c.496G>C (p.Gly166Arg) | |
| 21 | g.44901530C>T | CA410476032 | ITGB2 | c.703G>A (p.Gly235Ser) c.676G>A (p.Gly226Ser) c.532G>A (p.Gly178Ser) n.846G>A c.*530G>A (n.*530G>A) c.496G>A (p.Gly166Ser) | |
| 21 | g.44901531C>A | CA410476033 | ITGB2 | c.702G>T (p.Glu234Asp) c.675G>T (p.Glu225Asp) c.531G>T (p.Glu177Asp) n.845G>T c.*529G>T (n.*529G>T) c.495G>T (p.Glu165Asp) | |
| 21 | g.44901531C= | CA2391880195 | ITGB2 | c.702G= (p.Glu234=) c.675G= (p.Glu225=) c.531G= (p.Glu177=) n.845G= c.*529G= (n.*529G=) c.495G= (p.Glu165=) | |
| 21 | g.44901531C>G | CA410476034 | ITGB2 | c.702G>C (p.Glu234Asp) c.675G>C (p.Glu225Asp) c.531G>C (p.Glu177Asp) n.845G>C c.*529G>C (n.*529G>C) c.495G>C (p.Glu165Asp) | |
| 21 | g.44901531C>T | CA321851379 | ITGB2 | c.702G>A (p.Glu234=) c.675G>A (p.Glu225=) c.531G>A (p.Glu177=) n.845G>A c.*529G>A (n.*529G>A) c.495G>A (p.Glu165=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901532T>A | CA410476035 | ITGB2 | c.701A>T (p.Glu234Val) c.674A>T (p.Glu225Val) c.530A>T (p.Glu177Val) n.844A>T c.*528A>T (n.*528A>T) c.494A>T (p.Glu165Val) | |
| 21 | g.44901532T>C | CA410476036 | ITGB2 | c.701A>G (p.Glu234Gly) c.674A>G (p.Glu225Gly) c.530A>G (p.Glu177Gly) n.844A>G c.*528A>G (n.*528A>G) c.494A>G (p.Glu165Gly) | |
| 21 | g.44901532T>G | CA410476037 | ITGB2 | c.701A>C (p.Glu234Ala) c.674A>C (p.Glu225Ala) c.530A>C (p.Glu177Ala) n.844A>C c.*528A>C (n.*528A>C) c.494A>C (p.Glu165Ala) | |
| 21 | g.44901533C>A | CA410476040 | ITGB2 | c.700G>T (p.Glu234Ter) c.673G>T (p.Glu225Ter) c.529G>T (p.Glu177Ter) n.843G>T c.*527G>T (n.*527G>T) c.493G>T (p.Glu165Ter) | |
| 21 | g.44901533C= | CA2391880196 | ITGB2 | c.700G= (p.Glu234=) c.673G= (p.Glu225=) c.529G= (p.Glu177=) n.843G= c.*527G= (n.*527G=) c.493G= (p.Glu165=) | |
| 21 | g.44901533C>G | CA410476039 | ITGB2 | c.700G>C (p.Glu234Gln) c.673G>C (p.Glu225Gln) c.529G>C (p.Glu177Gln) n.843G>C c.*527G>C (n.*527G>C) c.493G>C (p.Glu165Gln) | COSMIC |
| 21 | g.44901533C>T | CA410476038 | ITGB2 | c.700G>A (p.Glu234Lys) c.673G>A (p.Glu225Lys) c.529G>A (p.Glu177Lys) n.843G>A c.*527G>A (n.*527G>A) c.493G>A (p.Glu165Lys) | dbSNP |
| 21 | g.44901534G>A | CA10063130 | ITGB2 | c.699C>T (p.Pro233=) c.672C>T (p.Pro224=) c.528C>T (p.Pro176=) n.842C>T c.*526C>T (n.*526C>T) c.492C>T (p.Pro164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901534G>C | CA10063131 | ITGB2 | c.699C>G (p.Pro233=) c.672C>G (p.Pro224=) c.528C>G (p.Pro176=) n.842C>G c.*526C>G (n.*526C>G) c.492C>G (p.Pro164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901534G= | CA2391880197 | ITGB2 | c.699C= (p.Pro233=) c.672C= (p.Pro224=) c.528C= (p.Pro176=) n.842C= c.*526C= (n.*526C=) c.492C= (p.Pro164=) | |
| 21 | g.44901534G>T | CA512551677 | ITGB2 | c.699C>A (p.Pro233=) c.672C>A (p.Pro224=) c.528C>A (p.Pro176=) n.842C>A c.*526C>A (n.*526C>A) c.492C>A (p.Pro164=) | |
| 21 | g.44901535G>A | CA410476041 | ITGB2 | c.698C>T (p.Pro233Leu) c.671C>T (p.Pro224Leu) c.527C>T (p.Pro176Leu) n.841C>T c.*525C>T (n.*525C>T) c.491C>T (p.Pro164Leu) | |
| 21 | g.44901535G>C | CA410476042 | ITGB2 | c.698C>G (p.Pro233Arg) c.671C>G (p.Pro224Arg) c.527C>G (p.Pro176Arg) n.841C>G c.*525C>G (n.*525C>G) c.491C>G (p.Pro164Arg) | |
| 21 | g.44901535G>T | CA410476043 | ITGB2 | c.698C>A (p.Pro233His) c.671C>A (p.Pro224His) c.527C>A (p.Pro176His) n.841C>A c.*525C>A (n.*525C>A) c.491C>A (p.Pro164His) | |
| 21 | g.44901536G>A | CA410476044 | ITGB2 | c.697C>T (p.Pro233Ser) c.670C>T (p.Pro224Ser) c.526C>T (p.Pro176Ser) n.840C>T c.*524C>T (n.*524C>T) c.490C>T (p.Pro164Ser) | |
| 21 | g.44901536G>C | CA410476045 | ITGB2 | c.697C>G (p.Pro233Ala) c.670C>G (p.Pro224Ala) c.526C>G (p.Pro176Ala) n.840C>G c.*524C>G (n.*524C>G) c.490C>G (p.Pro164Ala) | |
| 21 | g.44901536G>T | CA410476046 | ITGB2 | c.697C>A (p.Pro233Thr) c.670C>A (p.Pro224Thr) c.526C>A (p.Pro176Thr) n.840C>A c.*524C>A (n.*524C>A) c.490C>A (p.Pro164Thr) | |
| 21 | g.44901537T>A | CA512551678 | ITGB2 | c.696A>T (p.Ala232=) c.669A>T (p.Ala223=) c.525A>T (p.Ala175=) n.839A>T c.*523A>T (n.*523A>T) c.489A>T (p.Ala163=) | |
| 21 | g.44901537T>C | CA512551679 | ITGB2 | c.696A>G (p.Ala232=) c.669A>G (p.Ala223=) c.525A>G (p.Ala175=) n.839A>G c.*523A>G (n.*523A>G) c.489A>G (p.Ala163=) | |
| 21 | g.44901537T>G | CA512551680 | ITGB2 | c.696A>C (p.Ala232=) c.669A>C (p.Ala223=) c.525A>C (p.Ala175=) n.839A>C c.*523A>C (n.*523A>C) c.489A>C (p.Ala163=) | dbSNP |
| 21 | g.44901537T= | CA2391880198 | ITGB2 | c.696A= (p.Ala232=) c.669A= (p.Ala223=) c.525A= (p.Ala175=) n.839A= c.*523A= (n.*523A=) c.489A= (p.Ala163=) | |
| 21 | g.44901538G>A | CA410476047 | ITGB2 | c.695C>T (p.Ala232Val) c.668C>T (p.Ala223Val) c.524C>T (p.Ala175Val) n.838C>T c.*522C>T (n.*522C>T) c.488C>T (p.Ala163Val) | dbSNP |
| 21 | g.44901538G>C | CA410476048 | ITGB2 | c.695C>G (p.Ala232Gly) c.668C>G (p.Ala223Gly) c.524C>G (p.Ala175Gly) n.838C>G c.*522C>G (n.*522C>G) c.488C>G (p.Ala163Gly) | |
| 21 | g.44901538G= | CA2391880199 | ITGB2 | c.695C= (p.Ala232=) c.668C= (p.Ala223=) c.524C= (p.Ala175=) n.838C= c.*522C= (n.*522C=) c.488C= (p.Ala163=) | |
| 21 | g.44901538G>T | CA410476049 | ITGB2 | c.695C>A (p.Ala232Glu) c.668C>A (p.Ala223Glu) c.524C>A (p.Ala175Glu) n.838C>A c.*522C>A (n.*522C>A) c.488C>A (p.Ala163Glu) | gnomAD v4 |
| 21 | g.44901539C>A | CA410476052 | ITGB2 | c.694G>T (p.Ala232Ser) c.667G>T (p.Ala223Ser) c.523G>T (p.Ala175Ser) n.837G>T c.*521G>T (n.*521G>T) c.487G>T (p.Ala163Ser) | |
| 21 | g.44901539C>G | CA410476051 | ITGB2 | c.694G>C (p.Ala232Pro) c.667G>C (p.Ala223Pro) c.523G>C (p.Ala175Pro) n.837G>C c.*521G>C (n.*521G>C) c.487G>C (p.Ala163Pro) | |
| 21 | g.44901539C>T | CA410476050 | ITGB2 | c.694G>A (p.Ala232Thr) c.667G>A (p.Ala223Thr) c.523G>A (p.Ala175Thr) n.837G>A c.*521G>A (n.*521G>A) c.487G>A (p.Ala163Thr) | gnomAD v4 |
| 21 | g.44901540A= | CA2391880200 | ITGB2 | c.693T= (p.Asp231=) c.666T= (p.Asp222=) c.522T= (p.Asp174=) n.836T= c.*520T= (n.*520T=) c.486T= (p.Asp162=) | |
| 21 | g.44901540A>C | CA410476053 | ITGB2 | c.693T>G (p.Asp231Glu) c.666T>G (p.Asp222Glu) c.522T>G (p.Asp174Glu) n.836T>G c.*520T>G (n.*520T>G) c.486T>G (p.Asp162Glu) | dbSNP |
| 21 | g.44901540A>G | CA321851385 | ITGB2 | c.693T>C (p.Asp231=) c.666T>C (p.Asp222=) c.522T>C (p.Asp174=) n.836T>C c.*520T>C (n.*520T>C) c.486T>C (p.Asp162=) | dbSNP |
| 21 | g.44901540A>T | CA410476054 | ITGB2 | c.693T>A (p.Asp231Glu) c.666T>A (p.Asp222Glu) c.522T>A (p.Asp174Glu) n.836T>A c.*520T>A (n.*520T>A) c.486T>A (p.Asp162Glu) | |
| 21 | g.44901541T>A | CA410476055 | ITGB2 | c.692A>T (p.Asp231Val) c.665A>T (p.Asp222Val) c.521A>T (p.Asp174Val) n.835A>T c.*519A>T (n.*519A>T) c.485A>T (p.Asp162Val) |