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 |
|---|---|---|---|---|---|
| 3 | g.171005347G>A | CA020034 | SLC2A2 | c.901C>T (p.Arg301Ter) c.*368C>T (n.*368C>T) c.544C>T (p.Arg182Ter) c.382C>T (p.Arg128Ter) c.856C>T (p.Arg286Ter) c.682C>T (p.Arg228Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.171005347G>C | CA355488266 | SLC2A2 | c.901C>G (p.Arg301Gly) c.*368C>G (n.*368C>G) c.544C>G (p.Arg182Gly) c.382C>G (p.Arg128Gly) c.856C>G (p.Arg286Gly) c.682C>G (p.Arg228Gly) | |
| 3 | g.171005347G= | CA1420164793 | SLC2A2 | c.901C= (p.Arg301=) c.*368C= (n.*368C=) c.544C= (p.Arg182=) c.382C= (p.Arg128=) c.856C= (p.Arg286=) c.682C= (p.Arg228=) | |
| 3 | g.171005347G>T | CA436774852 | SLC2A2 | c.901C>A (p.Arg301=) c.*368C>A (n.*368C>A) c.544C>A (p.Arg182=) c.382C>A (p.Arg128=) c.856C>A (p.Arg286=) c.682C>A (p.Arg228=) | |
| 3 | g.171005347_171005348insA | CA547971501 | SLC2A2 | c.900_901insT (p.Arg301SerfsTer?) c.*367_*368insT (n.*367_*368insT) c.543_544insT (p.Arg182SerfsTer?) c.381_382insT (p.Arg128SerfsTer?) c.855_856insT (p.Arg286SerfsTer?) c.681_682insT (p.Arg228SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.171005348G>A | CA87709372 | SLC2A2 | c.900C>T (p.Tyr300=) c.*367C>T (n.*367C>T) c.543C>T (p.Tyr181=) c.381C>T (p.Tyr127=) c.855C>T (p.Tyr285=) c.681C>T (p.Tyr227=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.171005348G>C | CA355488268 | SLC2A2 | c.900C>G (p.Tyr300Ter) c.*367C>G (n.*367C>G) c.543C>G (p.Tyr181Ter) c.381C>G (p.Tyr127Ter) c.855C>G (p.Tyr285Ter) c.681C>G (p.Tyr227Ter) | |
| 3 | g.171005348G= | CA1420164795 | SLC2A2 | c.900C= (p.Tyr300=) c.*367C= (n.*367C=) c.543C= (p.Tyr181=) c.381C= (p.Tyr127=) c.855C= (p.Tyr285=) c.681C= (p.Tyr227=) | |
| 3 | g.171005348G>T | CA355488272 | SLC2A2 | c.900C>A (p.Tyr300Ter) c.*367C>A (n.*367C>A) c.543C>A (p.Tyr181Ter) c.381C>A (p.Tyr127Ter) c.855C>A (p.Tyr285Ter) c.681C>A (p.Tyr227Ter) | |
| 3 | g.171005349T>A | CA355488274 | SLC2A2 | c.899A>T (p.Tyr300Phe) c.*366A>T (n.*366A>T) c.542A>T (p.Tyr181Phe) c.380A>T (p.Tyr127Phe) c.854A>T (p.Tyr285Phe) c.680A>T (p.Tyr227Phe) | |
| 3 | g.171005349T>C | CA355488276 | SLC2A2 | c.899A>G (p.Tyr300Cys) c.*366A>G (n.*366A>G) c.542A>G (p.Tyr181Cys) c.380A>G (p.Tyr127Cys) c.854A>G (p.Tyr285Cys) c.680A>G (p.Tyr227Cys) | |
| 3 | g.171005349T>G | CA355488278 | SLC2A2 | c.899A>C (p.Tyr300Ser) c.*366A>C (n.*366A>C) c.542A>C (p.Tyr181Ser) c.380A>C (p.Tyr127Ser) c.854A>C (p.Tyr285Ser) c.680A>C (p.Tyr227Ser) | |
| 3 | g.171005350A= | CA1420164796 | SLC2A2 | c.898T= (p.Tyr300=) c.*365T= (n.*365T=) c.541T= (p.Tyr181=) c.379T= (p.Tyr127=) c.853T= (p.Tyr285=) c.679T= (p.Tyr227=) | |
| 3 | g.171005350A>C | CA355488280 | SLC2A2 | c.898T>G (p.Tyr300Asp) c.*365T>G (n.*365T>G) c.541T>G (p.Tyr181Asp) c.379T>G (p.Tyr127Asp) c.853T>G (p.Tyr285Asp) c.679T>G (p.Tyr227Asp) | |
| 3 | g.171005350A>G | CA2702552 | SLC2A2 | c.898T>C (p.Tyr300His) c.*365T>C (n.*365T>C) c.541T>C (p.Tyr181His) c.379T>C (p.Tyr127His) c.853T>C (p.Tyr285His) c.679T>C (p.Tyr227His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.171005350A>T | CA355488284 | SLC2A2 | c.898T>A (p.Tyr300Asn) c.*365T>A (n.*365T>A) c.541T>A (p.Tyr181Asn) c.379T>A (p.Tyr127Asn) c.853T>A (p.Tyr285Asn) c.679T>A (p.Tyr227Asn) | |
| 3 | g.171005351G>A | CA436774860 | SLC2A2 | c.897C>T (p.Ser299=) c.*364C>T (n.*364C>T) c.540C>T (p.Ser180=) c.378C>T (p.Ser126=) c.852C>T (p.Ser284=) c.678C>T (p.Ser226=) | gnomAD v4 |
| 3 | g.171005351G>C | CA355488288 | SLC2A2 | c.897C>G (p.Ser299Arg) c.*364C>G (n.*364C>G) c.540C>G (p.Ser180Arg) c.378C>G (p.Ser126Arg) c.852C>G (p.Ser284Arg) c.678C>G (p.Ser226Arg) | |
| 3 | g.171005351G>T | CA355488286 | SLC2A2 | c.897C>A (p.Ser299Arg) c.*364C>A (n.*364C>A) c.540C>A (p.Ser180Arg) c.378C>A (p.Ser126Arg) c.852C>A (p.Ser284Arg) c.678C>A (p.Ser226Arg) | |
| 3 | g.171005352C>A | CA355488292 | SLC2A2 | c.896G>T (p.Ser299Ile) c.*363G>T (n.*363G>T) c.539G>T (p.Ser180Ile) c.377G>T (p.Ser126Ile) c.851G>T (p.Ser284Ile) c.677G>T (p.Ser226Ile) | |
| 3 | g.171005352C>G | CA355488293 | SLC2A2 | c.896G>C (p.Ser299Thr) c.*363G>C (n.*363G>C) c.539G>C (p.Ser180Thr) c.377G>C (p.Ser126Thr) c.851G>C (p.Ser284Thr) c.677G>C (p.Ser226Thr) | gnomAD v4 |
| 3 | g.171005352C>T | CA355488296 | SLC2A2 | c.896G>A (p.Ser299Asn) c.*363G>A (n.*363G>A) c.539G>A (p.Ser180Asn) c.377G>A (p.Ser126Asn) c.851G>A (p.Ser284Asn) c.677G>A (p.Ser226Asn) | |
| 3 | g.171005353T>A | CA2702553 | SLC2A2 | c.895A>T (p.Ser299Cys) c.*362A>T (n.*362A>T) c.538A>T (p.Ser180Cys) c.376A>T (p.Ser126Cys) c.850A>T (p.Ser284Cys) c.676A>T (p.Ser226Cys) | dbSNP ExAC |
| 3 | g.171005353T>C | CA355488301 | SLC2A2 | c.895A>G (p.Ser299Gly) c.*362A>G (n.*362A>G) c.538A>G (p.Ser180Gly) c.376A>G (p.Ser126Gly) c.850A>G (p.Ser284Gly) c.676A>G (p.Ser226Gly) | |
| 3 | g.171005353T>G | CA355488304 | SLC2A2 | c.895A>C (p.Ser299Arg) c.*362A>C (n.*362A>C) c.538A>C (p.Ser180Arg) c.376A>C (p.Ser126Arg) c.850A>C (p.Ser284Arg) c.676A>C (p.Ser226Arg) | |
| 3 | g.171005353T= | CA1420164797 | SLC2A2 | c.895A= (p.Ser299=) c.*362A= (n.*362A=) c.538A= (p.Ser180=) c.376A= (p.Ser126=) c.850A= (p.Ser284=) c.676A= (p.Ser226=) | |
| 3 | g.171005354G>A | CA436774866 | SLC2A2 | c.894C>T (p.Ser298=) c.*361C>T (n.*361C>T) c.537C>T (p.Ser179=) c.375C>T (p.Ser125=) c.849C>T (p.Ser283=) c.675C>T (p.Ser225=) | dbSNP |
| 3 | g.171005354G>C | CA436774865 | SLC2A2 | c.894C>G (p.Ser298=) c.*361C>G (n.*361C>G) c.537C>G (p.Ser179=) c.375C>G (p.Ser125=) c.849C>G (p.Ser283=) c.675C>G (p.Ser225=) | |
| 3 | g.171005354G= | CA1420164798 | SLC2A2 | c.894C= (p.Ser298=) c.*361C= (n.*361C=) c.537C= (p.Ser179=) c.375C= (p.Ser125=) c.849C= (p.Ser283=) c.675C= (p.Ser225=) | |
| 3 | g.171005354G>T | CA436774864 | SLC2A2 | c.894C>A (p.Ser298=) c.*361C>A (n.*361C>A) c.537C>A (p.Ser179=) c.375C>A (p.Ser125=) c.849C>A (p.Ser283=) c.675C>A (p.Ser225=) | |
| 3 | g.171005355G>A | CA355488306 | SLC2A2 | c.893C>T (p.Ser298Phe) c.*360C>T (n.*360C>T) c.536C>T (p.Ser179Phe) c.374C>T (p.Ser125Phe) c.848C>T (p.Ser283Phe) c.674C>T (p.Ser225Phe) | |
| 3 | g.171005355G>C | CA355488311 | SLC2A2 | c.893C>G (p.Ser298Cys) c.*360C>G (n.*360C>G) c.536C>G (p.Ser179Cys) c.374C>G (p.Ser125Cys) c.848C>G (p.Ser283Cys) c.674C>G (p.Ser225Cys) | |
| 3 | g.171005355G>T | CA355488309 | SLC2A2 | c.893C>A (p.Ser298Tyr) c.*360C>A (n.*360C>A) c.536C>A (p.Ser179Tyr) c.374C>A (p.Ser125Tyr) c.848C>A (p.Ser283Tyr) c.674C>A (p.Ser225Tyr) | |
| 3 | g.171005356A= | CA1420164799 | SLC2A2 | c.892T= (p.Ser298=) c.*359T= (n.*359T=) c.535T= (p.Ser179=) c.373T= (p.Ser125=) c.847T= (p.Ser283=) c.673T= (p.Ser225=) | |
| 3 | g.171005356A>C | CA355488315 | SLC2A2 | c.892T>G (p.Ser298Ala) c.*359T>G (n.*359T>G) c.535T>G (p.Ser179Ala) c.373T>G (p.Ser125Ala) c.847T>G (p.Ser283Ala) c.673T>G (p.Ser225Ala) | gnomAD v4 |
| 3 | g.171005356A>G | CA87709382 | SLC2A2 | c.892T>C (p.Ser298Pro) c.*359T>C (n.*359T>C) c.535T>C (p.Ser179Pro) c.373T>C (p.Ser125Pro) c.847T>C (p.Ser283Pro) c.673T>C (p.Ser225Pro) | dbSNP gnomAD v4 |
| 3 | g.171005356A>T | CA355488319 | SLC2A2 | c.892T>A (p.Ser298Thr) c.*359T>A (n.*359T>A) c.535T>A (p.Ser179Thr) c.373T>A (p.Ser125Thr) c.847T>A (p.Ser283Thr) c.673T>A (p.Ser225Thr) | |
| 3 | g.171005357A>C | CA355488322 | SLC2A2 | c.891T>G (p.Asn297Lys) c.*358T>G (n.*358T>G) c.534T>G (p.Asn178Lys) c.372T>G (p.Asn124Lys) c.846T>G (p.Asn282Lys) c.672T>G (p.Asn224Lys) | |
| 3 | g.171005357A>G | CA436774870 | SLC2A2 | c.891T>C (p.Asn297=) c.*358T>C (n.*358T>C) c.534T>C (p.Asn178=) c.372T>C (p.Asn124=) c.846T>C (p.Asn282=) c.672T>C (p.Asn224=) | |
| 3 | g.171005357A>T | CA355488324 | SLC2A2 | c.891T>A (p.Asn297Lys) c.*358T>A (n.*358T>A) c.534T>A (p.Asn178Lys) c.372T>A (p.Asn124Lys) c.846T>A (p.Asn282Lys) c.672T>A (p.Asn224Lys) | |
| 3 | g.171005358T>A | CA355488328 | SLC2A2 | c.890A>T (p.Asn297Ile) c.*357A>T (n.*357A>T) c.533A>T (p.Asn178Ile) c.371A>T (p.Asn124Ile) c.845A>T (p.Asn282Ile) c.671A>T (p.Asn224Ile) | |
| 3 | g.171005358T>C | CA2702554 | SLC2A2 | c.890A>G (p.Asn297Ser) c.*357A>G (n.*357A>G) c.533A>G (p.Asn178Ser) c.371A>G (p.Asn124Ser) c.845A>G (p.Asn282Ser) c.671A>G (p.Asn224Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.171005358T>G | CA355488332 | SLC2A2 | c.890A>C (p.Asn297Thr) c.*357A>C (n.*357A>C) c.533A>C (p.Asn178Thr) c.371A>C (p.Asn124Thr) c.845A>C (p.Asn282Thr) c.671A>C (p.Asn224Thr) | |
| 3 | g.171005358T= | CA1420164800 | SLC2A2 | c.890A= (p.Asn297=) c.*357A= (n.*357A=) c.533A= (p.Asn178=) c.371A= (p.Asn124=) c.845A= (p.Asn282=) c.671A= (p.Asn224=) | |
| 3 | g.171005359T>A | CA355488337 | SLC2A2 | c.889A>T (p.Asn297Tyr) c.*356A>T (n.*356A>T) c.532A>T (p.Asn178Tyr) c.370A>T (p.Asn124Tyr) c.844A>T (p.Asn282Tyr) c.670A>T (p.Asn224Tyr) | |
| 3 | g.171005359T>C | CA355488340 | SLC2A2 | c.889A>G (p.Asn297Asp) c.*356A>G (n.*356A>G) c.532A>G (p.Asn178Asp) c.370A>G (p.Asn124Asp) c.844A>G (p.Asn282Asp) c.670A>G (p.Asn224Asp) | |
| 3 | g.171005359T>G | CA355488343 | SLC2A2 | c.889A>C (p.Asn297His) c.*356A>C (n.*356A>C) c.532A>C (p.Asn178His) c.370A>C (p.Asn124His) c.844A>C (p.Asn282His) c.670A>C (p.Asn224His) | |
| 3 | g.171005360G>A | CA436774873 | SLC2A2 | c.888C>T (p.Thr296=) c.*355C>T (n.*355C>T) c.531C>T (p.Thr177=) c.369C>T (p.Thr123=) c.843C>T (p.Thr281=) c.669C>T (p.Thr223=) | |
| 3 | g.171005360G>C | CA436774879 | SLC2A2 | c.888C>G (p.Thr296=) c.*355C>G (n.*355C>G) c.531C>G (p.Thr177=) c.369C>G (p.Thr123=) c.843C>G (p.Thr281=) c.669C>G (p.Thr223=) | |
| 3 | g.171005360G>T | CA436774876 | SLC2A2 | c.888C>A (p.Thr296=) c.*355C>A (n.*355C>A) c.531C>A (p.Thr177=) c.369C>A (p.Thr123=) c.843C>A (p.Thr281=) c.669C>A (p.Thr223=) |