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 |
|---|---|---|---|---|---|
| 19 | g.12649969del | CA658799153 | MAN2B1 | c.2212del (p.Glu738ArgfsTer28) c.2209del (p.Glu737ArgfsTer28) n.2802del c.2215del (p.Glu739ArgfsTer28) c.1111del (p.Glu371ArgfsTer28) | ClinVar dbSNP |
| 19 | g.12649969C>A | CA505770912 | MAN2B1 | c.2211G>T (p.Leu737=) c.2208G>T (p.Leu736=) n.2801G>T c.2214G>T (p.Leu738=) c.1110G>T (p.Leu370=) | |
| 19 | g.12649969C>G | CA505770914 | MAN2B1 | c.2211G>C (p.Leu737=) c.2208G>C (p.Leu736=) n.2801G>C c.2214G>C (p.Leu738=) c.1110G>C (p.Leu370=) | |
| 19 | g.12649969C>T | CA505770915 | MAN2B1 | c.2211G>A (p.Leu737=) c.2208G>A (p.Leu736=) n.2801G>A c.2214G>A (p.Leu738=) c.1110G>A (p.Leu370=) | |
| 19 | g.12649970A>C | CA404242778 | MAN2B1 | c.2210T>G (p.Leu737Arg) c.2207T>G (p.Leu736Arg) n.2800T>G c.2213T>G (p.Leu738Arg) c.1109T>G (p.Leu370Arg) | |
| 19 | g.12649970A>G | CA404242779 | MAN2B1 | c.2210T>C (p.Leu737Pro) c.2207T>C (p.Leu736Pro) n.2800T>C c.2213T>C (p.Leu738Pro) c.1109T>C (p.Leu370Pro) | |
| 19 | g.12649970A>T | CA404242781 | MAN2B1 | c.2210T>A (p.Leu737Gln) c.2207T>A (p.Leu736Gln) n.2800T>A c.2213T>A (p.Leu738Gln) c.1109T>A (p.Leu370Gln) | gnomAD v4 |
| 19 | g.12649971G>A | CA505770918 | MAN2B1 | c.2209C>T (p.Leu737=) c.2206C>T (p.Leu736=) n.2799C>T c.2212C>T (p.Leu738=) c.1108C>T (p.Leu370=) | ClinVar |
| 19 | g.12649971G>C | CA404242783 | MAN2B1 | c.2209C>G (p.Leu737Val) c.2206C>G (p.Leu736Val) n.2799C>G c.2212C>G (p.Leu738Val) c.1108C>G (p.Leu370Val) | |
| 19 | g.12649971G>T | CA404242785 | MAN2B1 | c.2209C>A (p.Leu737Met) c.2206C>A (p.Leu736Met) n.2799C>A c.2212C>A (p.Leu738Met) c.1108C>A (p.Leu370Met) | |
| 19 | g.12649972C>A | CA505770922 | MAN2B1 | c.2208G>T (p.Pro736=) c.2205G>T (p.Pro735=) n.2798G>T c.2211G>T (p.Pro737=) c.1107G>T (p.Pro369=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.12649972C= | CA2323500022 | MAN2B1 | c.2208G= (p.Pro736=) c.2205G= (p.Pro735=) n.2798G= c.2211G= (p.Pro737=) c.1107G= (p.Pro369=) | |
| 19 | g.12649972C>G | CA505770923 | MAN2B1 | c.2208G>C (p.Pro736=) c.2205G>C (p.Pro735=) n.2798G>C c.2211G>C (p.Pro737=) c.1107G>C (p.Pro369=) | |
| 19 | g.12649972C>T | CA9226159 | MAN2B1 | c.2208G>A (p.Pro736=) c.2205G>A (p.Pro735=) n.2798G>A c.2211G>A (p.Pro737=) c.1107G>A (p.Pro369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649973G>A | CA404242790 | MAN2B1 | c.2207C>T (p.Pro736Leu) c.2204C>T (p.Pro735Leu) n.2797C>T c.2210C>T (p.Pro737Leu) c.1106C>T (p.Pro369Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649973G>C | CA404242786 | MAN2B1 | c.2207C>G (p.Pro736Arg) c.2204C>G (p.Pro735Arg) n.2797C>G c.2210C>G (p.Pro737Arg) c.1106C>G (p.Pro369Arg) | dbSNP gnomAD v4 |
| 19 | g.12649973G= | CA2323500023 | MAN2B1 | c.2207C= (p.Pro736=) c.2204C= (p.Pro735=) n.2797C= c.2210C= (p.Pro737=) c.1106C= (p.Pro369=) | |
| 19 | g.12649973G>T | CA404242788 | MAN2B1 | c.2207C>A (p.Pro736Gln) c.2204C>A (p.Pro735Gln) n.2797C>A c.2210C>A (p.Pro737Gln) c.1106C>A (p.Pro369Gln) | |
| 19 | g.12649974G>A | CA404242792 | MAN2B1 | c.2206C>T (p.Pro736Ser) c.2203C>T (p.Pro735Ser) n.2796C>T c.2209C>T (p.Pro737Ser) c.1105C>T (p.Pro369Ser) | gnomAD v4 |
| 19 | g.12649974G>C | CA404242793 | MAN2B1 | c.2206C>G (p.Pro736Ala) c.2203C>G (p.Pro735Ala) n.2796C>G c.2209C>G (p.Pro737Ala) c.1105C>G (p.Pro369Ala) | |
| 19 | g.12649974G>T | CA404242795 | MAN2B1 | c.2206C>A (p.Pro736Thr) c.2203C>A (p.Pro735Thr) n.2796C>A c.2209C>A (p.Pro737Thr) c.1105C>A (p.Pro369Thr) | ClinVar gnomAD v4 |
| 19 | g.12649975T>A | CA505770929 | MAN2B1 | c.2205A>T (p.Thr735=) c.2202A>T (p.Thr734=) n.2795A>T c.2208A>T (p.Thr736=) c.1104A>T (p.Thr368=) | |
| 19 | g.12649975T>C | CA505770930 | MAN2B1 | c.2205A>G (p.Thr735=) c.2202A>G (p.Thr734=) n.2795A>G c.2208A>G (p.Thr736=) c.1104A>G (p.Thr368=) | |
| 19 | g.12649975T>G | CA505770931 | MAN2B1 | c.2205A>C (p.Thr735=) c.2202A>C (p.Thr734=) n.2795A>C c.2208A>C (p.Thr736=) c.1104A>C (p.Thr368=) | |
| 19 | g.12649976G>A | CA404242797 | MAN2B1 | c.2204C>T (p.Thr735Ile) c.2201C>T (p.Thr734Ile) n.2794C>T c.2207C>T (p.Thr736Ile) c.1103C>T (p.Thr368Ile) | gnomAD v4 |
| 19 | g.12649976G>C | CA404242799 | MAN2B1 | c.2204C>G (p.Thr735Arg) c.2201C>G (p.Thr734Arg) n.2794C>G c.2207C>G (p.Thr736Arg) c.1103C>G (p.Thr368Arg) | |
| 19 | g.12649976G>T | CA404242800 | MAN2B1 | c.2204C>A (p.Thr735Lys) c.2201C>A (p.Thr734Lys) n.2794C>A c.2207C>A (p.Thr736Lys) c.1103C>A (p.Thr368Lys) | |
| 19 | g.12649977T>A | CA404242801 | MAN2B1 | c.2203A>T (p.Thr735Ser) c.2200A>T (p.Thr734Ser) n.2793A>T c.2206A>T (p.Thr736Ser) c.1102A>T (p.Thr368Ser) | |
| 19 | g.12649977T>C | CA404242803 | MAN2B1 | c.2203A>G (p.Thr735Ala) c.2200A>G (p.Thr734Ala) n.2793A>G c.2206A>G (p.Thr736Ala) c.1102A>G (p.Thr368Ala) | |
| 19 | g.12649977T>G | CA404242805 | MAN2B1 | c.2203A>C (p.Thr735Pro) c.2200A>C (p.Thr734Pro) n.2793A>C c.2206A>C (p.Thr736Pro) c.1102A>C (p.Thr368Pro) | |
| 19 | g.12649978G>A | CA505770938 | MAN2B1 | c.2202C>T (p.Asp734=) c.2199C>T (p.Asp733=) n.2792C>T c.2205C>T (p.Asp735=) c.1101C>T (p.Asp367=) | ClinVar |
| 19 | g.12649978G>C | CA404242807 | MAN2B1 | c.2202C>G (p.Asp734Glu) c.2199C>G (p.Asp733Glu) n.2792C>G c.2205C>G (p.Asp735Glu) c.1101C>G (p.Asp367Glu) | |
| 19 | g.12649978G>T | CA404242808 | MAN2B1 | c.2202C>A (p.Asp734Glu) c.2199C>A (p.Asp733Glu) n.2792C>A c.2205C>A (p.Asp735Glu) c.1101C>A (p.Asp367Glu) | |
| 19 | g.12649979T>A | CA404242813 | MAN2B1 | c.2201A>T (p.Asp734Val) c.2198A>T (p.Asp733Val) n.2791A>T c.2204A>T (p.Asp735Val) c.1100A>T (p.Asp367Val) | |
| 19 | g.12649979T>C | CA404242812 | MAN2B1 | c.2201A>G (p.Asp734Gly) c.2198A>G (p.Asp733Gly) n.2791A>G c.2204A>G (p.Asp735Gly) c.1100A>G (p.Asp367Gly) | |
| 19 | g.12649979T>G | CA404242810 | MAN2B1 | c.2201A>C (p.Asp734Ala) c.2198A>C (p.Asp733Ala) n.2791A>C c.2204A>C (p.Asp735Ala) c.1100A>C (p.Asp367Ala) | |
| 19 | g.12649980C>A | CA404242815 | MAN2B1 | c.2200G>T (p.Asp734Tyr) c.2197G>T (p.Asp733Tyr) n.2790G>T c.2203G>T (p.Asp735Tyr) c.1099G>T (p.Asp367Tyr) | |
| 19 | g.12649980C>G | CA404242816 | MAN2B1 | c.2200G>C (p.Asp734His) c.2197G>C (p.Asp733His) n.2790G>C c.2203G>C (p.Asp735His) c.1099G>C (p.Asp367His) | |
| 19 | g.12649980C>T | CA404242818 | MAN2B1 | c.2200G>A (p.Asp734Asn) c.2197G>A (p.Asp733Asn) n.2790G>A c.2203G>A (p.Asp735Asn) c.1099G>A (p.Asp367Asn) | |
| 19 | g.12649981A>C | CA404242824 | MAN2B1 | c.2199T>G (p.Phe733Leu) c.2196T>G (p.Phe732Leu) n.2789T>G c.2202T>G (p.Phe734Leu) c.1098T>G (p.Phe366Leu) | |
| 19 | g.12649981A>G | CA505770942 | MAN2B1 | c.2199T>C (p.Phe733=) c.2196T>C (p.Phe732=) n.2789T>C c.2202T>C (p.Phe734=) c.1098T>C (p.Phe366=) | |
| 19 | g.12649981A>T | CA404242825 | MAN2B1 | c.2199T>A (p.Phe733Leu) c.2196T>A (p.Phe732Leu) n.2789T>A c.2202T>A (p.Phe734Leu) c.1098T>A (p.Phe366Leu) | |
| 19 | g.12649984del | CA2580096687 | MAN2B1 | c.2199del (p.Phe733LeufsTer?) c.2196del (p.Phe732LeufsTer?) n.2789del c.2202del (p.Phe734LeufsTer?) c.1098del (p.Phe366LeufsTer?) | ClinVar |
| 19 | g.12649982A>C | CA404242830 | MAN2B1 | c.2198T>G (p.Phe733Cys) c.2195T>G (p.Phe732Cys) n.2788T>G c.2201T>G (p.Phe734Cys) c.1097T>G (p.Phe366Cys) | |
| 19 | g.12649982A>G | CA404242829 | MAN2B1 | c.2198T>C (p.Phe733Ser) c.2195T>C (p.Phe732Ser) n.2788T>C c.2201T>C (p.Phe734Ser) c.1097T>C (p.Phe366Ser) | |
| 19 | g.12649982A>T | CA404242827 | MAN2B1 | c.2198T>A (p.Phe733Tyr) c.2195T>A (p.Phe732Tyr) n.2788T>A c.2201T>A (p.Phe734Tyr) c.1097T>A (p.Phe366Tyr) | |
| 19 | g.12649983A>C | CA404242832 | MAN2B1 | c.2197T>G (p.Phe733Val) c.2194T>G (p.Phe732Val) n.2787T>G c.2200T>G (p.Phe734Val) c.1096T>G (p.Phe366Val) | |
| 19 | g.12649983A>G | CA404242834 | MAN2B1 | c.2197T>C (p.Phe733Leu) c.2194T>C (p.Phe732Leu) n.2787T>C c.2200T>C (p.Phe734Leu) c.1096T>C (p.Phe366Leu) | |
| 19 | g.12649983A>T | CA404242835 | MAN2B1 | c.2197T>A (p.Phe733Ile) c.2194T>A (p.Phe732Ile) n.2787T>A c.2200T>A (p.Phe734Ile) c.1096T>A (p.Phe366Ile) | |
| 19 | g.12649984A>C | CA505770945 | MAN2B1 | c.2196T>G (p.Arg732=) c.2193T>G (p.Arg731=) n.2786T>G c.2199T>G (p.Arg733=) c.1095T>G (p.Arg365=) |