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.30672250G>A | CA045577 | TGFBR2 | c.1067G>A (p.Arg356Gln) n.2663G>A c.1142G>A (p.Arg381Gln) c.1094G>A (p.Arg365Gln) c.1019G>A (p.Arg340Gln) c.962G>A (p.Arg321Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672250G>C | CA020594 | TGFBR2 | c.1067G>C (p.Arg356Pro) n.2663G>C c.1142G>C (p.Arg381Pro) c.1094G>C (p.Arg365Pro) c.1019G>C (p.Arg340Pro) c.962G>C (p.Arg321Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672250G= | CA1354873204 | TGFBR2 | c.1067G= (p.Arg356=) n.2663G= c.1142G= (p.Arg381=) c.1094G= (p.Arg365=) c.1019G= (p.Arg340=) c.962G= (p.Arg321=) | |
| 3 | g.30672250G>T | CA351808467 | TGFBR2 | c.1067G>T (p.Arg356Leu) n.2663G>T c.1142G>T (p.Arg381Leu) c.1094G>T (p.Arg365Leu) c.1019G>T (p.Arg340Leu) c.962G>T (p.Arg321Leu) | |
| 3 | g.30672250_30672251insC | CA433059083 | TGFBR2 | c.1067_1068insC (p.Ile358AspfsTer7) n.2663_2664insC c.1142_1143insC (p.Ile383AspfsTer7) c.1094_1095insC (p.Ile367AspfsTer7) c.1019_1020insC (p.Ile342AspfsTer7) c.962_963insC (p.Ile323AspfsTer7) | |
| 3 | g.30672251G>A | CA433059084 | TGFBR2 | c.1068G>A (p.Arg356=) n.2664G>A c.1143G>A (p.Arg381=) c.1095G>A (p.Arg365=) c.1020G>A (p.Arg340=) c.963G>A (p.Arg321=) | dbSNP |
| 3 | g.30672251G>C | CA433059085 | TGFBR2 | c.1068G>C (p.Arg356=) n.2664G>C c.1143G>C (p.Arg381=) c.1095G>C (p.Arg365=) c.1020G>C (p.Arg340=) c.963G>C (p.Arg321=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672251G= | CA1354873205 | TGFBR2 | c.1068G= (p.Arg356=) n.2664G= c.1143G= (p.Arg381=) c.1095G= (p.Arg365=) c.1020G= (p.Arg340=) c.963G= (p.Arg321=) | |
| 3 | g.30672251G>T | CA433059086 | TGFBR2 | c.1068G>T (p.Arg356=) n.2664G>T c.1143G>T (p.Arg381=) c.1095G>T (p.Arg365=) c.1020G>T (p.Arg340=) c.963G>T (p.Arg321=) | dbSNP |
| 3 | g.30672252G>A | CA351808468 | TGFBR2 | c.1069G>A (p.Gly357Arg) n.2665G>A c.1144G>A (p.Gly382Arg) c.1096G>A (p.Gly366Arg) c.1021G>A (p.Gly341Arg) c.964G>A (p.Gly322Arg) | |
| 3 | g.30672252G>C | CA351808469 | TGFBR2 | c.1069G>C (p.Gly357Arg) n.2665G>C c.1144G>C (p.Gly382Arg) c.1096G>C (p.Gly366Arg) c.1021G>C (p.Gly341Arg) c.964G>C (p.Gly322Arg) | |
| 3 | g.30672252G= | CA1354873206 | TGFBR2 | c.1069G= (p.Gly357=) n.2665G= c.1144G= (p.Gly382=) c.1096G= (p.Gly366=) c.1021G= (p.Gly341=) c.964G= (p.Gly322=) | |
| 3 | g.30672252G>T | CA020598 | TGFBR2 | c.1069G>T (p.Gly357Trp) n.2665G>T c.1144G>T (p.Gly382Trp) c.1096G>T (p.Gly366Trp) c.1021G>T (p.Gly341Trp) c.964G>T (p.Gly322Trp) | ClinVar dbSNP |
| 3 | g.30672253G>A | CA351808471 | TGFBR2 | c.1070G>A (p.Gly357Glu) n.2666G>A c.1145G>A (p.Gly382Glu) c.1097G>A (p.Gly366Glu) c.1022G>A (p.Gly341Glu) c.965G>A (p.Gly322Glu) | dbSNP |
| 3 | g.30672253G>C | CA045607 | TGFBR2 | c.1070G>C (p.Gly357Ala) n.2666G>C c.1145G>C (p.Gly382Ala) c.1097G>C (p.Gly366Ala) c.1022G>C (p.Gly341Ala) c.965G>C (p.Gly322Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672253G= | CA1354873207 | TGFBR2 | c.1070G= (p.Gly357=) n.2666G= c.1145G= (p.Gly382=) c.1097G= (p.Gly366=) c.1022G= (p.Gly341=) c.965G= (p.Gly322=) | |
| 3 | g.30672253G>T | CA351808470 | TGFBR2 | c.1070G>T (p.Gly357Val) n.2666G>T c.1145G>T (p.Gly382Val) c.1097G>T (p.Gly366Val) c.1022G>T (p.Gly341Val) c.965G>T (p.Gly322Val) | |
| 3 | g.30672254G>A | CA433059090 | TGFBR2 | c.1071G>A (p.Gly357=) n.2667G>A c.1146G>A (p.Gly382=) c.1098G>A (p.Gly366=) c.1023G>A (p.Gly341=) c.966G>A (p.Gly322=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672254G>C | CA433059091 | TGFBR2 | c.1071G>C (p.Gly357=) n.2667G>C c.1146G>C (p.Gly382=) c.1098G>C (p.Gly366=) c.1023G>C (p.Gly341=) c.966G>C (p.Gly322=) | dbSNP gnomAD v4 |
| 3 | g.30672254G= | CA1354873208 | TGFBR2 | c.1071G= (p.Gly357=) n.2667G= c.1146G= (p.Gly382=) c.1098G= (p.Gly366=) c.1023G= (p.Gly341=) c.966G= (p.Gly322=) | |
| 3 | g.30672254G>T | CA433059092 | TGFBR2 | c.1071G>T (p.Gly357=) n.2667G>T c.1146G>T (p.Gly382=) c.1098G>T (p.Gly366=) c.1023G>T (p.Gly341=) c.966G>T (p.Gly322=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672255A= | CA1354873209 | TGFBR2 | c.1072A= (p.Ile358=) n.2668A= c.1147A= (p.Ile383=) c.1099A= (p.Ile367=) c.1024A= (p.Ile342=) c.967A= (p.Ile323=) | |
| 3 | g.30672255A>C | CA351808472 | TGFBR2 | c.1072A>C (p.Ile358Leu) n.2668A>C c.1147A>C (p.Ile383Leu) c.1099A>C (p.Ile367Leu) c.1024A>C (p.Ile342Leu) c.967A>C (p.Ile323Leu) | dbSNP |
| 3 | g.30672255A>G | CA351808473 | TGFBR2 | c.1072A>G (p.Ile358Val) n.2668A>G c.1147A>G (p.Ile383Val) c.1099A>G (p.Ile367Val) c.1024A>G (p.Ile342Val) c.967A>G (p.Ile323Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672255A>T | CA351808474 | TGFBR2 | c.1072A>T (p.Ile358Phe) n.2668A>T c.1147A>T (p.Ile383Phe) c.1099A>T (p.Ile367Phe) c.1024A>T (p.Ile342Phe) c.967A>T (p.Ile323Phe) | dbSNP gnomAD v4 |
| 3 | g.30672256T>A | CA351808475 | TGFBR2 | c.1073T>A (p.Ile358Asn) n.2669T>A c.1148T>A (p.Ile383Asn) c.1100T>A (p.Ile367Asn) c.1025T>A (p.Ile342Asn) c.968T>A (p.Ile323Asn) | |
| 3 | g.30672256T>C | CA351808476 | TGFBR2 | c.1073T>C (p.Ile358Thr) n.2669T>C c.1148T>C (p.Ile383Thr) c.1100T>C (p.Ile367Thr) c.1025T>C (p.Ile342Thr) c.968T>C (p.Ile323Thr) | dbSNP gnomAD v4 |
| 3 | g.30672256T>G | CA351808477 | TGFBR2 | c.1073T>G (p.Ile358Ser) n.2669T>G c.1148T>G (p.Ile383Ser) c.1100T>G (p.Ile367Ser) c.1025T>G (p.Ile342Ser) c.968T>G (p.Ile323Ser) | dbSNP |
| 3 | g.30672256T= | CA1354873210 | TGFBR2 | c.1073T= (p.Ile358=) n.2669T= c.1148T= (p.Ile383=) c.1100T= (p.Ile367=) c.1025T= (p.Ile342=) c.968T= (p.Ile323=) | |
| 3 | g.30672257T>A | CA433059095 | TGFBR2 | c.1074T>A (p.Ile358=) n.2670T>A c.1149T>A (p.Ile383=) c.1101T>A (p.Ile367=) c.1026T>A (p.Ile342=) c.969T>A (p.Ile323=) | dbSNP |
| 3 | g.30672257T>C | CA433059096 | TGFBR2 | c.1074T>C (p.Ile358=) n.2670T>C c.1149T>C (p.Ile383=) c.1101T>C (p.Ile367=) c.1026T>C (p.Ile342=) c.969T>C (p.Ile323=) | |
| 3 | g.30672257T>G | CA351808478 | TGFBR2 | c.1074T>G (p.Ile358Met) n.2670T>G c.1149T>G (p.Ile383Met) c.1101T>G (p.Ile367Met) c.1026T>G (p.Ile342Met) c.969T>G (p.Ile323Met) | |
| 3 | g.30672258G>A | CA351808479 | TGFBR2 | c.1075G>A (p.Ala359Thr) n.2671G>A c.1150G>A (p.Ala384Thr) c.1102G>A (p.Ala368Thr) c.1027G>A (p.Ala343Thr) c.970G>A (p.Ala324Thr) | dbSNP |
| 3 | g.30672258G>C | CA351808480 | TGFBR2 | c.1075G>C (p.Ala359Pro) n.2671G>C c.1150G>C (p.Ala384Pro) c.1102G>C (p.Ala368Pro) c.1027G>C (p.Ala343Pro) c.970G>C (p.Ala324Pro) | dbSNP |
| 3 | g.30672258G>T | CA351808481 | TGFBR2 | c.1075G>T (p.Ala359Ser) n.2671G>T c.1150G>T (p.Ala384Ser) c.1102G>T (p.Ala368Ser) c.1027G>T (p.Ala343Ser) c.970G>T (p.Ala324Ser) | gnomAD v4 |
| 3 | g.30672259C>A | CA351808482 | TGFBR2 | c.1076C>A (p.Ala359Asp) n.2672C>A c.1151C>A (p.Ala384Asp) c.1103C>A (p.Ala368Asp) c.1028C>A (p.Ala343Asp) c.971C>A (p.Ala324Asp) | dbSNP |
| 3 | g.30672259C>G | CA351808483 | TGFBR2 | c.1076C>G (p.Ala359Gly) n.2672C>G c.1151C>G (p.Ala384Gly) c.1103C>G (p.Ala368Gly) c.1028C>G (p.Ala343Gly) c.971C>G (p.Ala324Gly) | dbSNP |
| 3 | g.30672259C>T | CA351808484 | TGFBR2 | c.1076C>T (p.Ala359Val) n.2672C>T c.1151C>T (p.Ala384Val) c.1103C>T (p.Ala368Val) c.1028C>T (p.Ala343Val) c.971C>T (p.Ala324Val) | dbSNP |
| 3 | g.30672260T>A | CA432917567 | TGFBR2 | c.1077T>A (p.Ala359=) n.2673T>A c.1152T>A (p.Ala384=) c.1104T>A (p.Ala368=) c.1029T>A (p.Ala343=) c.972T>A (p.Ala324=) | dbSNP |
| 3 | g.30672260T>C | CA432917568 | TGFBR2 | c.1077T>C (p.Ala359=) n.2673T>C c.1152T>C (p.Ala384=) c.1104T>C (p.Ala368=) c.1029T>C (p.Ala343=) c.972T>C (p.Ala324=) | ClinVar dbSNP |
| 3 | g.30672260T>G | CA432917566 | TGFBR2 | c.1077T>G (p.Ala359=) n.2673T>G c.1152T>G (p.Ala384=) c.1104T>G (p.Ala368=) c.1029T>G (p.Ala343=) c.972T>G (p.Ala324=) | |
| 3 | g.30672260T= | CA1354873211 | TGFBR2 | c.1077T= (p.Ala359=) n.2673T= c.1152T= (p.Ala384=) c.1104T= (p.Ala368=) c.1029T= (p.Ala343=) c.972T= (p.Ala324=) | |
| 3 | g.30672261C>A | CA351808486 | TGFBR2 | c.1078C>A (p.His360Asn) n.2674C>A c.1153C>A (p.His385Asn) c.1105C>A (p.His369Asn) c.1030C>A (p.His344Asn) c.973C>A (p.His325Asn) | dbSNP |
| 3 | g.30672261C= | CA1354873212 | TGFBR2 | c.1078C= (p.His360=) n.2674C= c.1153C= (p.His385=) c.1105C= (p.His369=) c.1030C= (p.His344=) c.973C= (p.His325=) | |
| 3 | g.30672261C>G | CA045619 | TGFBR2 | c.1078C>G (p.His360Asp) n.2674C>G c.1153C>G (p.His385Asp) c.1105C>G (p.His369Asp) c.1030C>G (p.His344Asp) c.973C>G (p.His325Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672261C>T | CA351808485 | TGFBR2 | c.1078C>T (p.His360Tyr) n.2674C>T c.1153C>T (p.His385Tyr) c.1105C>T (p.His369Tyr) c.1030C>T (p.His344Tyr) c.973C>T (p.His325Tyr) | ClinVar dbSNP |
| 3 | g.30672262A>C | CA351808489 | TGFBR2 | c.1079A>C (p.His360Pro) n.2675A>C c.1154A>C (p.His385Pro) c.1106A>C (p.His369Pro) c.1031A>C (p.His344Pro) c.974A>C (p.His325Pro) | dbSNP |
| 3 | g.30672262A>G | CA351808487 | TGFBR2 | c.1079A>G (p.His360Arg) n.2675A>G c.1154A>G (p.His385Arg) c.1106A>G (p.His369Arg) c.1031A>G (p.His344Arg) c.974A>G (p.His325Arg) | dbSNP |
| 3 | g.30672262A>T | CA351808488 | TGFBR2 | c.1079A>T (p.His360Leu) n.2675A>T c.1154A>T (p.His385Leu) c.1106A>T (p.His369Leu) c.1031A>T (p.His344Leu) c.974A>T (p.His325Leu) | dbSNP |
| 3 | g.30672262_30672265delinsACCT | CA1354873213 | TGFBR2 | c.1079_1082delinsACCT (p.His360=) n.2675_2678delinsACCT c.1154_1157delinsACCT (p.His385=) c.1106_1109delinsACCT (p.His369=) c.1031_1034delinsACCT (p.His344=) c.974_977delinsACCT (p.His325=) |