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.30672234G>A | CA351808442 | TGFBR2 | c.1051G>A (p.Gly351Ser) n.2647G>A c.1126G>A (p.Gly376Ser) c.1078G>A (p.Gly360Ser) c.1003G>A (p.Gly335Ser) c.946G>A (p.Gly316Ser) | dbSNP gnomAD v4 |
| 3 | g.30672234G>C | CA351808443 | TGFBR2 | c.1051G>C (p.Gly351Arg) n.2647G>C c.1126G>C (p.Gly376Arg) c.1078G>C (p.Gly360Arg) c.1003G>C (p.Gly335Arg) c.946G>C (p.Gly316Arg) | ClinVar dbSNP |
| 3 | g.30672234G= | CA1354873194 | TGFBR2 | c.1051G= (p.Gly351=) n.2647G= c.1126G= (p.Gly376=) c.1078G= (p.Gly360=) c.1003G= (p.Gly335=) c.946G= (p.Gly316=) | |
| 3 | g.30672234G>T | CA351808444 | TGFBR2 | c.1051G>T (p.Gly351Cys) n.2647G>T c.1126G>T (p.Gly376Cys) c.1078G>T (p.Gly360Cys) c.1003G>T (p.Gly335Cys) c.946G>T (p.Gly316Cys) | dbSNP |
| 3 | g.30672235G>A | CA351866 | TGFBR2 | c.1052G>A (p.Gly351Asp) n.2648G>A c.1127G>A (p.Gly376Asp) c.1079G>A (p.Gly360Asp) c.1004G>A (p.Gly335Asp) c.947G>A (p.Gly316Asp) | ClinVar dbSNP |
| 3 | g.30672235G>C | CA351808445 | TGFBR2 | c.1052G>C (p.Gly351Ala) n.2648G>C c.1127G>C (p.Gly376Ala) c.1079G>C (p.Gly360Ala) c.1004G>C (p.Gly335Ala) c.947G>C (p.Gly316Ala) | dbSNP |
| 3 | g.30672235G= | CA1354873195 | TGFBR2 | c.1052G= (p.Gly351=) n.2648G= c.1127G= (p.Gly376=) c.1079G= (p.Gly360=) c.1004G= (p.Gly335=) c.947G= (p.Gly316=) | |
| 3 | g.30672235G>T | CA351808446 | TGFBR2 | c.1052G>T (p.Gly351Val) n.2648G>T c.1127G>T (p.Gly376Val) c.1079G>T (p.Gly360Val) c.1004G>T (p.Gly335Val) c.947G>T (p.Gly316Val) | dbSNP |
| 3 | g.30672236C>A | CA433059047 | TGFBR2 | c.1053C>A (p.Gly351=) n.2649C>A c.1128C>A (p.Gly376=) c.1080C>A (p.Gly360=) c.1005C>A (p.Gly335=) c.948C>A (p.Gly316=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672236C= | CA1354873196 | TGFBR2 | c.1053C= (p.Gly351=) n.2649C= c.1128C= (p.Gly376=) c.1080C= (p.Gly360=) c.1005C= (p.Gly335=) c.948C= (p.Gly316=) | |
| 3 | g.30672236C>G | CA433059048 | TGFBR2 | c.1053C>G (p.Gly351=) n.2649C>G c.1128C>G (p.Gly376=) c.1080C>G (p.Gly360=) c.1005C>G (p.Gly335=) c.948C>G (p.Gly316=) | |
| 3 | g.30672236C>T | CA433059049 | TGFBR2 | c.1053C>T (p.Gly351=) n.2649C>T c.1128C>T (p.Gly376=) c.1080C>T (p.Gly360=) c.1005C>T (p.Gly335=) c.948C>T (p.Gly316=) | dbSNP gnomAD v2 |
| 3 | g.30672237A>C | CA351808447 | TGFBR2 | c.1054A>C (p.Ser352Arg) n.2650A>C c.1129A>C (p.Ser377Arg) c.1081A>C (p.Ser361Arg) c.1006A>C (p.Ser336Arg) c.949A>C (p.Ser317Arg) | |
| 3 | g.30672237A>G | CA351808448 | TGFBR2 | c.1054A>G (p.Ser352Gly) n.2650A>G c.1129A>G (p.Ser377Gly) c.1081A>G (p.Ser361Gly) c.1006A>G (p.Ser336Gly) c.949A>G (p.Ser317Gly) | dbSNP |
| 3 | g.30672237A>T | CA351808449 | TGFBR2 | c.1054A>T (p.Ser352Cys) n.2650A>T c.1129A>T (p.Ser377Cys) c.1081A>T (p.Ser361Cys) c.1006A>T (p.Ser336Cys) c.949A>T (p.Ser317Cys) | dbSNP |
| 3 | g.30672238G>A | CA351808450 | TGFBR2 | c.1055G>A (p.Ser352Asn) n.2651G>A c.1130G>A (p.Ser377Asn) c.1082G>A (p.Ser361Asn) c.1007G>A (p.Ser336Asn) c.950G>A (p.Ser317Asn) | dbSNP gnomAD v4 |
| 3 | g.30672238G>C | CA351808451 | TGFBR2 | c.1055G>C (p.Ser352Thr) n.2651G>C c.1130G>C (p.Ser377Thr) c.1082G>C (p.Ser361Thr) c.1007G>C (p.Ser336Thr) c.950G>C (p.Ser317Thr) | dbSNP |
| 3 | g.30672238G>T | CA351808452 | TGFBR2 | c.1055G>T (p.Ser352Ile) n.2651G>T c.1130G>T (p.Ser377Ile) c.1082G>T (p.Ser361Ile) c.1007G>T (p.Ser336Ile) c.950G>T (p.Ser317Ile) | |
| 3 | g.30672239C>A | CA351808453 | TGFBR2 | c.1056C>A (p.Ser352Arg) n.2652C>A c.1131C>A (p.Ser377Arg) c.1083C>A (p.Ser361Arg) c.1008C>A (p.Ser336Arg) c.951C>A (p.Ser317Arg) | dbSNP |
| 3 | g.30672239C= | CA1354873197 | TGFBR2 | c.1056C= (p.Ser352=) n.2652C= c.1131C= (p.Ser377=) c.1083C= (p.Ser361=) c.1008C= (p.Ser336=) c.951C= (p.Ser317=) | |
| 3 | g.30672239C>G | CA71528616 | TGFBR2 | c.1056C>G (p.Ser352Arg) n.2652C>G c.1131C>G (p.Ser377Arg) c.1083C>G (p.Ser361Arg) c.1008C>G (p.Ser336Arg) c.951C>G (p.Ser317Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672239C>T | CA433059050 | TGFBR2 | c.1056C>T (p.Ser352=) n.2652C>T c.1131C>T (p.Ser377=) c.1083C>T (p.Ser361=) c.1008C>T (p.Ser336=) c.951C>T (p.Ser317=) | dbSNP |
| 3 | g.30672240T>A | CA351808454 | TGFBR2 | c.1057T>A (p.Ser353Thr) n.2653T>A c.1132T>A (p.Ser378Thr) c.1084T>A (p.Ser362Thr) c.1009T>A (p.Ser337Thr) c.952T>A (p.Ser318Thr) | dbSNP |
| 3 | g.30672240T>C | CA351808455 | TGFBR2 | c.1057T>C (p.Ser353Pro) n.2653T>C c.1132T>C (p.Ser378Pro) c.1084T>C (p.Ser362Pro) c.1009T>C (p.Ser337Pro) c.952T>C (p.Ser318Pro) | dbSNP |
| 3 | g.30672240T>G | CA351808456 | TGFBR2 | c.1057T>G (p.Ser353Ala) n.2653T>G c.1132T>G (p.Ser378Ala) c.1084T>G (p.Ser362Ala) c.1009T>G (p.Ser337Ala) c.952T>G (p.Ser318Ala) | |
| 3 | g.30672241C>A | CA351808457 | TGFBR2 | c.1058C>A (p.Ser353Tyr) n.2654C>A c.1133C>A (p.Ser378Tyr) c.1085C>A (p.Ser362Tyr) c.1010C>A (p.Ser337Tyr) c.953C>A (p.Ser318Tyr) | |
| 3 | g.30672241C= | CA1354873198 | TGFBR2 | c.1058C= (p.Ser353=) n.2654C= c.1133C= (p.Ser378=) c.1085C= (p.Ser362=) c.1010C= (p.Ser337=) c.953C= (p.Ser318=) | |
| 3 | g.30672241C>G | CA351808458 | TGFBR2 | c.1058C>G (p.Ser353Cys) n.2654C>G c.1133C>G (p.Ser378Cys) c.1085C>G (p.Ser362Cys) c.1010C>G (p.Ser337Cys) c.953C>G (p.Ser318Cys) | dbSNP |
| 3 | g.30672241C>T | CA351808459 | TGFBR2 | c.1058C>T (p.Ser353Phe) n.2654C>T c.1133C>T (p.Ser378Phe) c.1085C>T (p.Ser362Phe) c.1010C>T (p.Ser337Phe) c.953C>T (p.Ser318Phe) | ClinVar dbSNP COSMIC |
| 3 | g.30672242C>A | CA433059057 | TGFBR2 | c.1059C>A (p.Ser353=) n.2655C>A c.1134C>A (p.Ser378=) c.1086C>A (p.Ser362=) c.1011C>A (p.Ser337=) c.954C>A (p.Ser318=) | ClinVar dbSNP |
| 3 | g.30672242C>G | CA433059059 | TGFBR2 | c.1059C>G (p.Ser353=) n.2655C>G c.1134C>G (p.Ser378=) c.1086C>G (p.Ser362=) c.1011C>G (p.Ser337=) c.954C>G (p.Ser318=) | dbSNP |
| 3 | g.30672242C>T | CA433059061 | TGFBR2 | c.1059C>T (p.Ser353=) n.2655C>T c.1134C>T (p.Ser378=) c.1086C>T (p.Ser362=) c.1011C>T (p.Ser337=) c.954C>T (p.Ser318=) | ClinVar dbSNP |
| 3 | g.30672243C>A | CA045505 | TGFBR2 | c.1060C>A (p.Leu354Ile) n.2656C>A c.1135C>A (p.Leu379Ile) c.1087C>A (p.Leu363Ile) c.1012C>A (p.Leu338Ile) c.955C>A (p.Leu319Ile) | dbSNP ExAC |
| 3 | g.30672243C= | CA1354873199 | TGFBR2 | c.1060C= (p.Leu354=) n.2656C= c.1135C= (p.Leu379=) c.1087C= (p.Leu363=) c.1012C= (p.Leu338=) c.955C= (p.Leu319=) | |
| 3 | g.30672243C>G | CA351808460 | TGFBR2 | c.1060C>G (p.Leu354Val) n.2656C>G c.1135C>G (p.Leu379Val) c.1087C>G (p.Leu363Val) c.1012C>G (p.Leu338Val) c.955C>G (p.Leu319Val) | dbSNP |
| 3 | g.30672243C>T | CA351808461 | TGFBR2 | c.1060C>T (p.Leu354Phe) n.2656C>T c.1135C>T (p.Leu379Phe) c.1087C>T (p.Leu363Phe) c.1012C>T (p.Leu338Phe) c.955C>T (p.Leu319Phe) | dbSNP |
| 3 | g.30672244T>A | CA351808462 | TGFBR2 | c.1061T>A (p.Leu354His) n.2657T>A c.1136T>A (p.Leu379His) c.1088T>A (p.Leu363His) c.1013T>A (p.Leu338His) c.956T>A (p.Leu319His) | dbSNP |
| 3 | g.30672244T>C | CA351808463 | TGFBR2 | c.1061T>C (p.Leu354Pro) n.2657T>C c.1136T>C (p.Leu379Pro) c.1088T>C (p.Leu363Pro) c.1013T>C (p.Leu338Pro) c.956T>C (p.Leu319Pro) | |
| 3 | g.30672244T>G | CA351808464 | TGFBR2 | c.1061T>G (p.Leu354Arg) n.2657T>G c.1136T>G (p.Leu379Arg) c.1088T>G (p.Leu363Arg) c.1013T>G (p.Leu338Arg) c.956T>G (p.Leu319Arg) | COSMIC COSMIC |
| 3 | g.30672245C>A | CA433059070 | TGFBR2 | c.1062C>A (p.Leu354=) n.2658C>A c.1137C>A (p.Leu379=) c.1089C>A (p.Leu363=) c.1014C>A (p.Leu338=) c.957C>A (p.Leu319=) | |
| 3 | g.30672245C= | CA1354873200 | TGFBR2 | c.1062C= (p.Leu354=) n.2658C= c.1137C= (p.Leu379=) c.1089C= (p.Leu363=) c.1014C= (p.Leu338=) c.957C= (p.Leu319=) | |
| 3 | g.30672245C>G | CA433059069 | TGFBR2 | c.1062C>G (p.Leu354=) n.2658C>G c.1137C>G (p.Leu379=) c.1089C>G (p.Leu363=) c.1014C>G (p.Leu338=) c.957C>G (p.Leu319=) | dbSNP |
| 3 | g.30672245C>T | CA020586 | TGFBR2 | c.1062C>T (p.Leu354=) n.2658C>T c.1137C>T (p.Leu379=) c.1089C>T (p.Leu363=) c.1014C>T (p.Leu338=) c.957C>T (p.Leu319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672246G>A | CA16604494 | TGFBR2 | c.1063G>A (p.Ala355Thr) n.2659G>A c.1138G>A (p.Ala380Thr) c.1090G>A (p.Ala364Thr) c.1015G>A (p.Ala339Thr) c.958G>A (p.Ala320Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672246G>C | CA020590 | TGFBR2 | c.1063G>C (p.Ala355Pro) n.2659G>C c.1138G>C (p.Ala380Pro) c.1090G>C (p.Ala364Pro) c.1015G>C (p.Ala339Pro) c.958G>C (p.Ala320Pro) | ClinVar dbSNP |
| 3 | g.30672246G= | CA1354873201 | TGFBR2 | c.1063G= (p.Ala355=) n.2659G= c.1138G= (p.Ala380=) c.1090G= (p.Ala364=) c.1015G= (p.Ala339=) c.958G= (p.Ala320=) | |
| 3 | g.30672246G>T | CA045538 | TGFBR2 | c.1063G>T (p.Ala355Ser) n.2659G>T c.1138G>T (p.Ala380Ser) c.1090G>T (p.Ala364Ser) c.1015G>T (p.Ala339Ser) c.958G>T (p.Ala320Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672247C>A | CA351808465 | TGFBR2 | c.1064C>A (p.Ala355Asp) n.2660C>A c.1139C>A (p.Ala380Asp) c.1091C>A (p.Ala364Asp) c.1016C>A (p.Ala339Asp) c.959C>A (p.Ala320Asp) | dbSNP |
| 3 | g.30672247C= | CA1354873202 | TGFBR2 | c.1064C= (p.Ala355=) n.2660C= c.1139C= (p.Ala380=) c.1091C= (p.Ala364=) c.1016C= (p.Ala339=) c.959C= (p.Ala320=) | |
| 3 | g.30672247C>G | CA351808466 | TGFBR2 | c.1064C>G (p.Ala355Gly) n.2660C>G c.1139C>G (p.Ala380Gly) c.1091C>G (p.Ala364Gly) c.1016C>G (p.Ala339Gly) c.959C>G (p.Ala320Gly) | dbSNP |