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 |
|---|---|---|---|---|---|
| 15 | g.90088605_90088606delinsAT | CA645572396 | IDH2 | c.515_516delinsAT (p.Arg172Asn) c.359_360delinsAT (p.Arg120Asn) c.208-104_208-103delinsAT (n.208-104_208-103delinsAT) c.*140_*141delinsAT (n.*140_*141delinsAT) c.125_126delinsAT (p.Arg42Asn) | dbSNP COSMIC |
| 15 | g.90088605_90088606delinsTT | CA645572395 | IDH2 | c.515_516delinsAA (p.Arg172Lys) c.359_360delinsAA (p.Arg120Lys) c.208-104_208-103delinsAA (n.208-104_208-103delinsAA) c.*140_*141delinsAA (n.*140_*141delinsAA) c.125_126delinsAA (p.Arg42Lys) | COSMIC |
| 15 | g.90088606C>A | CA16602461 | IDH2 | c.515G>T (p.Arg172Met) c.359G>T (p.Arg120Met) c.208-104G>T (n.208-104G>T) c.*140G>T (n.*140G>T) c.125G>T (p.Arg42Met) | ClinVar dbSNP COSMIC |
| 15 | g.90088606C= | CA2194954443 | IDH2 | c.515G= (p.Arg172=) c.359G= (p.Arg120=) c.208-104G= (n.208-104G=) c.*140G= (n.*140G=) c.125G= (p.Arg42=) | |
| 15 | g.90088606C>G | CA393802239 | IDH2 | c.515G>C (p.Arg172Thr) c.359G>C (p.Arg120Thr) c.208-104G>C (n.208-104G>C) c.*140G>C (n.*140G>C) c.125G>C (p.Arg42Thr) | dbSNP COSMIC |
| 15 | g.90088606C>T | CA16602462 | IDH2 | c.515G>A (p.Arg172Lys) c.359G>A (p.Arg120Lys) c.208-104G>A (n.208-104G>A) c.*140G>A (n.*140G>A) c.125G>A (p.Arg42Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.90088606_90088607delinsAC | CA919615129 | IDH2 | c.514_515delinsGT (p.Arg172Val) c.358_359delinsGT (p.Arg120Val) c.208-105_208-104delinsGT (n.208-105_208-104delinsGT) c.*139_*140delinsGT (n.*139_*140delinsGT) c.124_125delinsGT (p.Arg42Val) | dbSNP |
| 15 | g.90088606_90088607delinsCT | CA2194954442 | IDH2 | c.514_515delinsAG (p.Arg172=) c.358_359delinsAG (p.Arg120=) c.208-105_208-104delinsAG (n.208-105_208-104delinsAG) c.*139_*140delinsAG (n.*139_*140delinsAG) c.124_125delinsAG (p.Arg42=) | |
| 15 | g.90088607T>A | CA16602873 | IDH2 | c.514A>T (p.Arg172Trp) c.358A>T (p.Arg120Trp) c.208-105A>T (n.208-105A>T) c.*139A>T (n.*139A>T) c.124A>T (p.Arg42Trp) | ClinVar dbSNP COSMIC |
| 15 | g.90088607T>C | CA16602874 | IDH2 | c.514A>G (p.Arg172Gly) c.358A>G (p.Arg120Gly) c.208-105A>G (n.208-105A>G) c.*139A>G (n.*139A>G) c.124A>G (p.Arg42Gly) | ClinVar dbSNP COSMIC |
| 15 | g.90088607T>G | CA492298027 | IDH2 | c.514A>C (p.Arg172=) c.358A>C (p.Arg120=) c.208-105A>C (n.208-105A>C) c.*139A>C (n.*139A>C) c.124A>C (p.Arg42=) | gnomAD v4 COSMIC |
| 15 | g.90088607T= | CA2194954444 | IDH2 | c.514A= (p.Arg172=) c.358A= (p.Arg120=) c.208-105A= (n.208-105A=) c.*139A= (n.*139A=) c.124A= (p.Arg42=) | |
| 15 | g.90088608G>A | CA492298029 | IDH2 | c.513C>T (p.Gly171=) c.357C>T (p.Gly119=) c.208-106C>T (n.208-106C>T) c.*138C>T (n.*138C>T) c.123C>T (p.Gly41=) | |
| 15 | g.90088608G>C | CA492298030 | IDH2 | c.513C>G (p.Gly171=) c.357C>G (p.Gly119=) c.208-106C>G (n.208-106C>G) c.*138C>G (n.*138C>G) c.123C>G (p.Gly41=) | |
| 15 | g.90088608G>T | CA492298031 | IDH2 | c.513C>A (p.Gly171=) c.357C>A (p.Gly119=) c.208-106C>A (n.208-106C>A) c.*138C>A (n.*138C>A) c.123C>A (p.Gly41=) | |
| 15 | g.90088609C>A | CA393802240 | IDH2 | c.512G>T (p.Gly171Val) c.356G>T (p.Gly119Val) c.208-107G>T (n.208-107G>T) c.*137G>T (n.*137G>T) c.122G>T (p.Gly41Val) | dbSNP |
| 15 | g.90088609C>G | CA393802241 | IDH2 | c.512G>C (p.Gly171Ala) c.356G>C (p.Gly119Ala) c.208-107G>C (n.208-107G>C) c.*137G>C (n.*137G>C) c.122G>C (p.Gly41Ala) | dbSNP |
| 15 | g.90088609C>T | CA393802242 | IDH2 | c.512G>A (p.Gly171Asp) c.356G>A (p.Gly119Asp) c.208-107G>A (n.208-107G>A) c.*137G>A (n.*137G>A) c.122G>A (p.Gly41Asp) | dbSNP COSMIC |
| 15 | g.90088610C>A | CA393802243 | IDH2 | c.511G>T (p.Gly171Cys) c.355G>T (p.Gly119Cys) c.208-108G>T (n.208-108G>T) c.*136G>T (n.*136G>T) c.121G>T (p.Gly41Cys) | dbSNP |
| 15 | g.90088610C>G | CA393802245 | IDH2 | c.511G>C (p.Gly171Arg) c.355G>C (p.Gly119Arg) c.208-108G>C (n.208-108G>C) c.*136G>C (n.*136G>C) c.121G>C (p.Gly41Arg) | dbSNP |
| 15 | g.90088610C>T | CA393802244 | IDH2 | c.511G>A (p.Gly171Ser) c.355G>A (p.Gly119Ser) c.208-108G>A (n.208-108G>A) c.*136G>A (n.*136G>A) c.121G>A (p.Gly41Ser) | dbSNP |
| 15 | g.90088611A>C | CA393802246 | IDH2 | c.510T>G (p.Ile170Met) c.354T>G (p.Ile118Met) c.208-109T>G (n.208-109T>G) c.*135T>G (n.*135T>G) c.120T>G (p.Ile40Met) | |
| 15 | g.90088611A>G | CA492298036 | IDH2 | c.510T>C (p.Ile170=) c.354T>C (p.Ile118=) c.208-109T>C (n.208-109T>C) c.*135T>C (n.*135T>C) c.120T>C (p.Ile40=) | gnomAD v4 |
| 15 | g.90088611A>T | CA492298035 | IDH2 | c.510T>A (p.Ile170=) c.354T>A (p.Ile118=) c.208-109T>A (n.208-109T>A) c.*135T>A (n.*135T>A) c.120T>A (p.Ile40=) | |
| 15 | g.90088612A= | CA2194954445 | IDH2 | c.509T= (p.Ile170=) c.353T= (p.Ile118=) c.208-110T= (n.208-110T=) c.*134T= (n.*134T=) c.119T= (p.Ile40=) | |
| 15 | g.90088612A>C | CA393802247 | IDH2 | c.509T>G (p.Ile170Ser) c.353T>G (p.Ile118Ser) c.208-110T>G (n.208-110T>G) c.*134T>G (n.*134T>G) c.119T>G (p.Ile40Ser) | |
| 15 | g.90088612A>G | CA7733171 | IDH2 | c.509T>C (p.Ile170Thr) c.353T>C (p.Ile118Thr) c.208-110T>C (n.208-110T>C) c.*134T>C (n.*134T>C) c.119T>C (p.Ile40Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90088612A>T | CA393802248 | IDH2 | c.509T>A (p.Ile170Asn) c.353T>A (p.Ile118Asn) c.208-110T>A (n.208-110T>A) c.*134T>A (n.*134T>A) c.119T>A (p.Ile40Asn) | dbSNP |
| 15 | g.90088613T>A | CA393802251 | IDH2 | c.508A>T (p.Ile170Phe) c.352A>T (p.Ile118Phe) c.208-111A>T (n.208-111A>T) c.*133A>T (n.*133A>T) c.118A>T (p.Ile40Phe) | |
| 15 | g.90088613T>C | CA393802249 | IDH2 | c.508A>G (p.Ile170Val) c.352A>G (p.Ile118Val) c.208-111A>G (n.208-111A>G) c.*133A>G (n.*133A>G) c.118A>G (p.Ile40Val) | |
| 15 | g.90088613T>G | CA393802250 | IDH2 | c.508A>C (p.Ile170Leu) c.352A>C (p.Ile118Leu) c.208-111A>C (n.208-111A>C) c.*133A>C (n.*133A>C) c.118A>C (p.Ile40Leu) | |
| 15 | g.90088614G>A | CA492298039 | IDH2 | c.507C>T (p.Thr169=) c.351C>T (p.Thr117=) c.208-112C>T (n.208-112C>T) c.*132C>T (n.*132C>T) c.117C>T (p.Thr39=) | dbSNP |
| 15 | g.90088614G>C | CA492298041 | IDH2 | c.507C>G (p.Thr169=) c.351C>G (p.Thr117=) c.208-112C>G (n.208-112C>G) c.*132C>G (n.*132C>G) c.117C>G (p.Thr39=) | dbSNP |
| 15 | g.90088614G>T | CA492298042 | IDH2 | c.507C>A (p.Thr169=) c.351C>A (p.Thr117=) c.208-112C>A (n.208-112C>A) c.*132C>A (n.*132C>A) c.117C>A (p.Thr39=) | |
| 15 | g.90088615G>A | CA7733172 | IDH2 | c.506C>T (p.Thr169Ile) c.350C>T (p.Thr117Ile) c.208-113C>T (n.208-113C>T) c.*131C>T (n.*131C>T) c.116C>T (p.Thr39Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90088615G>C | CA393802252 | IDH2 | c.506C>G (p.Thr169Ser) c.350C>G (p.Thr117Ser) c.208-113C>G (n.208-113C>G) c.*131C>G (n.*131C>G) c.116C>G (p.Thr39Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90088615G= | CA2194954446 | IDH2 | c.506C= (p.Thr169=) c.350C= (p.Thr117=) c.208-113C= (n.208-113C=) c.*131C= (n.*131C=) c.116C= (p.Thr39=) | |
| 15 | g.90088615G>T | CA393802253 | IDH2 | c.506C>A (p.Thr169Asn) c.350C>A (p.Thr117Asn) c.208-113C>A (n.208-113C>A) c.*131C>A (n.*131C>A) c.116C>A (p.Thr39Asn) | dbSNP |
| 15 | g.90088616T>A | CA393802254 | IDH2 | c.505A>T (p.Thr169Ser) c.349A>T (p.Thr117Ser) c.208-114A>T (n.208-114A>T) c.*130A>T (n.*130A>T) c.115A>T (p.Thr39Ser) | dbSNP |
| 15 | g.90088616T>C | CA7733173 | IDH2 | c.505A>G (p.Thr169Ala) c.349A>G (p.Thr117Ala) c.208-114A>G (n.208-114A>G) c.*130A>G (n.*130A>G) c.115A>G (p.Thr39Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90088616T>G | CA393802255 | IDH2 | c.505A>C (p.Thr169Pro) c.349A>C (p.Thr117Pro) c.208-114A>C (n.208-114A>C) c.*130A>C (n.*130A>C) c.115A>C (p.Thr39Pro) | dbSNP |
| 15 | g.90088616T= | CA2194954447 | IDH2 | c.505A= (p.Thr169=) c.349A= (p.Thr117=) c.208-114A= (n.208-114A=) c.*130A= (n.*130A=) c.115A= (p.Thr39=) | |
| 15 | g.90088617G>A | CA492298043 | IDH2 | c.504C>T (p.Ile168=) c.348C>T (p.Ile116=) c.208-115C>T (n.208-115C>T) c.*129C>T (n.*129C>T) c.114C>T (p.Ile38=) | dbSNP gnomAD v4 |
| 15 | g.90088617G>C | CA393802256 | IDH2 | c.504C>G (p.Ile168Met) c.348C>G (p.Ile116Met) c.208-115C>G (n.208-115C>G) c.*129C>G (n.*129C>G) c.114C>G (p.Ile38Met) | dbSNP |
| 15 | g.90088617G= | CA2194954448 | IDH2 | c.504C= (p.Ile168=) c.348C= (p.Ile116=) c.208-115C= (n.208-115C=) c.*129C= (n.*129C=) c.114C= (p.Ile38=) | |
| 15 | g.90088617G>T | CA492298045 | IDH2 | c.504C>A (p.Ile168=) c.348C>A (p.Ile116=) c.208-115C>A (n.208-115C>A) c.*129C>A (n.*129C>A) c.114C>A (p.Ile38=) | |
| 15 | g.90088618A>C | CA393802257 | IDH2 | c.503T>G (p.Ile168Ser) c.347T>G (p.Ile116Ser) c.208-116T>G (n.208-116T>G) c.*128T>G (n.*128T>G) c.113T>G (p.Ile38Ser) | |
| 15 | g.90088618A>G | CA393802258 | IDH2 | c.503T>C (p.Ile168Thr) c.347T>C (p.Ile116Thr) c.208-116T>C (n.208-116T>C) c.*128T>C (n.*128T>C) c.113T>C (p.Ile38Thr) | dbSNP |
| 15 | g.90088618A>T | CA393802259 | IDH2 | c.503T>A (p.Ile168Asn) c.347T>A (p.Ile116Asn) c.208-116T>A (n.208-116T>A) c.*128T>A (n.*128T>A) c.113T>A (p.Ile38Asn) | dbSNP |
| 15 | g.90088619T>A | CA393802260 | IDH2 | c.502A>T (p.Ile168Phe) c.346A>T (p.Ile116Phe) c.208-117A>T (n.208-117A>T) c.*127A>T (n.*127A>T) c.112A>T (p.Ile38Phe) |