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 |
|---|---|---|---|---|---|
| 17 | g.44374352A= | CA2261365200 | ITGA2B | c.3060+2T= (n.3060+2T=) c.2374+307T= c.253+1481T= c.37+307T= n.2761T= c.2958+2T= (n.2958+2T=) c.2943+307T= (n.2943+307T=) | |
| 17 | g.44374352A>C | CA399788144 | ITGA2B | c.3060+2T>G (n.3060+2T>G) c.2374+307T>G c.253+1481T>G c.37+307T>G n.2761T>G c.2958+2T>G (n.2958+2T>G) c.2943+307T>G (n.2943+307T>G) | dbSNP |
| 17 | g.44374352A>G | CA290944108 | ITGA2B | c.3060+2T>C (n.3060+2T>C) c.2374+307T>C c.253+1481T>C c.37+307T>C n.2761T>C c.2958+2T>C (n.2958+2T>C) c.2943+307T>C (n.2943+307T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44374352A>T | CA399788146 | ITGA2B | c.3060+2T>A (n.3060+2T>A) c.2374+307T>A c.253+1481T>A c.37+307T>A n.2761T>A c.2958+2T>A (n.2958+2T>A) c.2943+307T>A (n.2943+307T>A) | |
| 17 | g.44374353C>A | CA399788148 | ITGA2B | c.3060+1G>T (n.3060+1G>T) c.2374+306G>T c.253+1480G>T c.37+306G>T n.2760G>T c.2958+1G>T (n.2958+1G>T) c.2943+306G>T (n.2943+306G>T) | |
| 17 | g.44374353C= | CA2261365201 | ITGA2B | c.3060+1G= (n.3060+1G=) c.2374+306G= c.253+1480G= c.37+306G= n.2760G= c.2958+1G= (n.2958+1G=) c.2943+306G= (n.2943+306G=) | |
| 17 | g.44374353C>G | CA399788149 | ITGA2B | c.3060+1G>C (n.3060+1G>C) c.2374+306G>C c.253+1480G>C c.37+306G>C n.2760G>C c.2958+1G>C (n.2958+1G>C) c.2943+306G>C (n.2943+306G>C) | |
| 17 | g.44374353C>T | CA399788151 | ITGA2B | c.3060+1G>A (n.3060+1G>A) c.2374+306G>A c.253+1480G>A c.37+306G>A n.2760G>A c.2958+1G>A (n.2958+1G>A) c.2943+306G>A (n.2943+306G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44374354C>A | CA399788153 | ITGA2B | c.3060G>T (p.Lys1020Asn) c.2374+305G>T c.253+1479G>T c.37+305G>T n.2759G>T c.2958G>T (p.Lys986Asn) c.2943+305G>T (n.2943+305G>T) | |
| 17 | g.44374354C= | CA2261365202 | ITGA2B | c.3060G= (p.Lys1020=) c.2374+305G= c.253+1479G= c.37+305G= n.2759G= c.2958G= (p.Lys986=) c.2943+305G= (n.2943+305G=) | |
| 17 | g.44374354C>G | CA8602485 | ITGA2B | c.3060G>C (p.Lys1020Asn) c.2374+305G>C c.253+1479G>C c.37+305G>C n.2759G>C c.2958G>C (p.Lys986Asn) c.2943+305G>C (n.2943+305G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44374354C>T | CA500261104 | ITGA2B | c.3060G>A (p.Lys1020=) c.2374+305G>A c.253+1479G>A c.37+305G>A n.2759G>A c.2958G>A (p.Lys986=) c.2943+305G>A (n.2943+305G>A) | ClinVar dbSNP |
| 17 | g.44374355T>A | CA399788157 | ITGA2B | c.3059A>T (p.Lys1020Met) c.2374+304A>T c.253+1478A>T c.37+304A>T n.2758A>T c.2957A>T (p.Lys986Met) c.2943+304A>T (n.2943+304A>T) | |
| 17 | g.44374355T>C | CA399788159 | ITGA2B | c.3059A>G (p.Lys1020Arg) c.2374+304A>G c.253+1478A>G c.37+304A>G n.2758A>G c.2957A>G (p.Lys986Arg) c.2943+304A>G (n.2943+304A>G) | gnomAD v4 |
| 17 | g.44374355T>G | CA399788160 | ITGA2B | c.3059A>C (p.Lys1020Thr) c.2374+304A>C c.253+1478A>C c.37+304A>C n.2758A>C c.2957A>C (p.Lys986Thr) c.2943+304A>C (n.2943+304A>C) | gnomAD v4 |
| 17 | g.44374356T>A | CA399788163 | ITGA2B | c.3058A>T (p.Lys1020Ter) c.2374+303A>T c.253+1477A>T c.37+303A>T n.2757A>T c.2956A>T (p.Lys986Ter) c.2943+303A>T (n.2943+303A>T) | |
| 17 | g.44374356T>C | CA399788165 | ITGA2B | c.3058A>G (p.Lys1020Glu) c.2374+303A>G c.253+1477A>G c.37+303A>G n.2757A>G c.2956A>G (p.Lys986Glu) c.2943+303A>G (n.2943+303A>G) | |
| 17 | g.44374356T>G | CA399788166 | ITGA2B | c.3058A>C (p.Lys1020Gln) c.2374+303A>C c.253+1477A>C c.37+303A>C n.2757A>C c.2956A>C (p.Lys986Gln) c.2943+303A>C (n.2943+303A>C) | |
| 17 | g.44374357C>A | CA399788171 | ITGA2B | c.3057G>T (p.Trp1019Cys) c.2374+302G>T c.253+1476G>T c.37+302G>T n.2756G>T c.2955G>T (p.Trp985Cys) c.2943+302G>T (n.2943+302G>T) | |
| 17 | g.44374357C>G | CA399788172 | ITGA2B | c.3057G>C (p.Trp1019Cys) c.2374+302G>C c.253+1476G>C c.37+302G>C n.2756G>C c.2955G>C (p.Trp985Cys) c.2943+302G>C (n.2943+302G>C) | |
| 17 | g.44374357C>T | CA399788169 | ITGA2B | c.3057G>A (p.Trp1019Ter) c.2374+302G>A c.253+1476G>A c.37+302G>A n.2756G>A c.2955G>A (p.Trp985Ter) c.2943+302G>A (n.2943+302G>A) | COSMIC |
| 17 | g.44374358C>A | CA399788173 | ITGA2B | c.3056G>T (p.Trp1019Leu) c.2374+301G>T c.253+1475G>T c.37+301G>T n.2755G>T c.2954G>T (p.Trp985Leu) c.2943+301G>T (n.2943+301G>T) | |
| 17 | g.44374358C>G | CA399788174 | ITGA2B | c.3056G>C (p.Trp1019Ser) c.2374+301G>C c.253+1475G>C c.37+301G>C n.2755G>C c.2954G>C (p.Trp985Ser) c.2943+301G>C (n.2943+301G>C) | |
| 17 | g.44374358C>T | CA399788175 | ITGA2B | c.3056G>A (p.Trp1019Ter) c.2374+301G>A c.253+1475G>A c.37+301G>A n.2755G>A c.2954G>A (p.Trp985Ter) c.2943+301G>A (n.2943+301G>A) | gnomAD v4 |
| 17 | g.44374359A>C | CA399788177 | ITGA2B | c.3055T>G (p.Trp1019Gly) c.2374+300T>G c.253+1474T>G c.37+300T>G n.2754T>G c.2953T>G (p.Trp985Gly) c.2943+300T>G (n.2943+300T>G) | |
| 17 | g.44374359A>G | CA399788179 | ITGA2B | c.3055T>C (p.Trp1019Arg) c.2374+300T>C c.253+1474T>C c.37+300T>C n.2754T>C c.2953T>C (p.Trp985Arg) c.2943+300T>C (n.2943+300T>C) | gnomAD v4 |
| 17 | g.44374359A>T | CA399788181 | ITGA2B | c.3055T>A (p.Trp1019Arg) c.2374+300T>A c.253+1474T>A c.37+300T>A n.2754T>A c.2953T>A (p.Trp985Arg) c.2943+300T>A (n.2943+300T>A) | |
| 17 | g.44374360C>A | CA399788182 | ITGA2B | c.3054G>T (p.Met1018Ile) c.2374+299G>T c.253+1473G>T c.37+299G>T n.2753G>T c.2952G>T (p.Met984Ile) c.2943+299G>T (n.2943+299G>T) | |
| 17 | g.44374360C>G | CA399788184 | ITGA2B | c.3054G>C (p.Met1018Ile) c.2374+299G>C c.253+1473G>C c.37+299G>C n.2753G>C c.2952G>C (p.Met984Ile) c.2943+299G>C (n.2943+299G>C) | |
| 17 | g.44374360C>T | CA399788186 | ITGA2B | c.3054G>A (p.Met1018Ile) c.2374+299G>A c.253+1473G>A c.37+299G>A n.2753G>A c.2952G>A (p.Met984Ile) c.2943+299G>A (n.2943+299G>A) | |
| 17 | g.44374361A= | CA2261365203 | ITGA2B | c.3053T= (p.Met1018=) c.2374+298T= c.253+1472T= c.37+298T= n.2752T= c.2951T= (p.Met984=) c.2943+298T= (n.2943+298T=) | |
| 17 | g.44374361A>C | CA399788188 | ITGA2B | c.3053T>G (p.Met1018Arg) c.2374+298T>G c.253+1472T>G c.37+298T>G n.2752T>G c.2951T>G (p.Met984Arg) c.2943+298T>G (n.2943+298T>G) | |
| 17 | g.44374361A>G | CA399788190 | ITGA2B | c.3053T>C (p.Met1018Thr) c.2374+298T>C c.253+1472T>C c.37+298T>C n.2752T>C c.2951T>C (p.Met984Thr) c.2943+298T>C (n.2943+298T>C) | dbSNP |
| 17 | g.44374361A>T | CA399788192 | ITGA2B | c.3053T>A (p.Met1018Lys) c.2374+298T>A c.253+1472T>A c.37+298T>A n.2752T>A c.2951T>A (p.Met984Lys) c.2943+298T>A (n.2943+298T>A) | |
| 17 | g.44374362T>A | CA399788193 | ITGA2B | c.3052A>T (p.Met1018Leu) c.2374+297A>T c.253+1471A>T c.37+297A>T n.2751A>T c.2950A>T (p.Met984Leu) c.2943+297A>T (n.2943+297A>T) | |
| 17 | g.44374362T>C | CA399788194 | ITGA2B | c.3052A>G (p.Met1018Val) c.2374+297A>G c.253+1471A>G c.37+297A>G n.2751A>G c.2950A>G (p.Met984Val) c.2943+297A>G (n.2943+297A>G) | |
| 17 | g.44374362T>G | CA399788195 | ITGA2B | c.3052A>C (p.Met1018Leu) c.2374+297A>C c.253+1471A>C c.37+297A>C n.2751A>C c.2950A>C (p.Met984Leu) c.2943+297A>C (n.2943+297A>C) | |
| 17 | g.44374363G>A | CA500261166 | ITGA2B | c.3051C>T (p.Ala1017=) c.2374+296C>T c.253+1470C>T c.37+296C>T n.2750C>T c.2949C>T (p.Ala983=) c.2943+296C>T (n.2943+296C>T) | |
| 17 | g.44374363G>C | CA8602486 | ITGA2B | c.3051C>G (p.Ala1017=) c.2374+296C>G c.253+1470C>G c.37+296C>G n.2750C>G c.2949C>G (p.Ala983=) c.2943+296C>G (n.2943+296C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44374363G= | CA2261365204 | ITGA2B | c.3051C= (p.Ala1017=) c.2374+296C= c.253+1470C= c.37+296C= n.2750C= c.2949C= (p.Ala983=) c.2943+296C= (n.2943+296C=) | |
| 17 | g.44374363G>T | CA500261171 | ITGA2B | c.3051C>A (p.Ala1017=) c.2374+296C>A c.253+1470C>A c.37+296C>A n.2750C>A c.2949C>A (p.Ala983=) c.2943+296C>A (n.2943+296C>A) | |
| 17 | g.44374364G>A | CA399789256 | ITGA2B | c.3050C>T (p.Ala1017Val) c.2374+295C>T c.253+1469C>T c.37+295C>T n.2749C>T c.2948C>T (p.Ala983Val) c.2943+295C>T (n.2943+295C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44374364G>C | CA399789278 | ITGA2B | c.3050C>G (p.Ala1017Gly) c.2374+295C>G c.253+1469C>G c.37+295C>G n.2749C>G c.2948C>G (p.Ala983Gly) c.2943+295C>G (n.2943+295C>G) | |
| 17 | g.44374364G= | CA2261365205 | ITGA2B | c.3050C= (p.Ala1017=) c.2374+295C= c.253+1469C= c.37+295C= n.2749C= c.2948C= (p.Ala983=) c.2943+295C= (n.2943+295C=) | |
| 17 | g.44374364G>T | CA399789281 | ITGA2B | c.3050C>A (p.Ala1017Asp) c.2374+295C>A c.253+1469C>A c.37+295C>A n.2749C>A c.2948C>A (p.Ala983Asp) c.2943+295C>A (n.2943+295C>A) | |
| 17 | g.44374365C>A | CA399789285 | ITGA2B | c.3049G>T (p.Ala1017Ser) c.2374+294G>T c.253+1468G>T c.37+294G>T n.2748G>T c.2947G>T (p.Ala983Ser) c.2943+294G>T (n.2943+294G>T) | |
| 17 | g.44374365C= | CA2261365206 | ITGA2B | c.3049G= (p.Ala1017=) c.2374+294G= c.253+1468G= c.37+294G= n.2748G= c.2947G= (p.Ala983=) c.2943+294G= (n.2943+294G=) | |
| 17 | g.44374365C>G | CA8602487 | ITGA2B | c.3049G>C (p.Ala1017Pro) c.2374+294G>C c.253+1468G>C c.37+294G>C n.2748G>C c.2947G>C (p.Ala983Pro) c.2943+294G>C (n.2943+294G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44374365C>T | CA399789291 | ITGA2B | c.3049G>A (p.Ala1017Thr) c.2374+294G>A c.253+1468G>A c.37+294G>A n.2748G>A c.2947G>A (p.Ala983Thr) c.2943+294G>A (n.2943+294G>A) | |
| 17 | g.44374366C>A | CA500261845 | ITGA2B | c.3048G>T (p.Leu1016=) c.2374+293G>T c.253+1467G>T c.37+293G>T n.2747G>T c.2946G>T (p.Leu982=) c.2943+293G>T (n.2943+293G>T) |