UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 3 | g.30672263C>A | CA351808490 | TGFBR2 | c.1080C>A (p.His360Gln) n.2676C>A c.1155C>A (p.His385Gln) c.1107C>A (p.His369Gln) c.1032C>A (p.His344Gln) c.975C>A (p.His325Gln) | dbSNP gnomAD v4 |
| 3 | g.30672263C>G | CA351808491 | TGFBR2 | c.1080C>G (p.His360Gln) n.2676C>G c.1155C>G (p.His385Gln) c.1107C>G (p.His369Gln) c.1032C>G (p.His344Gln) c.975C>G (p.His325Gln) | dbSNP |
| 3 | g.30672263C>T | CA432917569 | TGFBR2 | c.1080C>T (p.His360=) n.2676C>T c.1155C>T (p.His385=) c.1107C>T (p.His369=) c.1032C>T (p.His344=) c.975C>T (p.His325=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672265_30672267del | CA020601 | TGFBR2 | c.1082_1084del (p.Leu361del) n.2678_2680del c.1157_1159del (p.Leu386del) c.1109_1111del (p.Leu370del) c.1034_1036del (p.Leu345del) c.977_979del (p.Leu326del) | ClinVar dbSNP |
| 3 | g.30672264C>A | CA351808492 | TGFBR2 | c.1081C>A (p.Leu361Ile) n.2677C>A c.1156C>A (p.Leu386Ile) c.1108C>A (p.Leu370Ile) c.1033C>A (p.Leu345Ile) c.976C>A (p.Leu326Ile) | dbSNP |
| 3 | g.30672264C>G | CA351808493 | TGFBR2 | c.1081C>G (p.Leu361Val) n.2677C>G c.1156C>G (p.Leu386Val) c.1108C>G (p.Leu370Val) c.1033C>G (p.Leu345Val) c.976C>G (p.Leu326Val) | dbSNP |
| 3 | g.30672264C>T | CA351808494 | TGFBR2 | c.1081C>T (p.Leu361Phe) n.2677C>T c.1156C>T (p.Leu386Phe) c.1108C>T (p.Leu370Phe) c.1033C>T (p.Leu345Phe) c.976C>T (p.Leu326Phe) | dbSNP COSMIC COSMIC |
| 3 | g.30672265T>A | CA351808495 | TGFBR2 | c.1082T>A (p.Leu361His) n.2678T>A c.1157T>A (p.Leu386His) c.1109T>A (p.Leu370His) c.1034T>A (p.Leu345His) c.977T>A (p.Leu326His) | COSMIC COSMIC |
| 3 | g.30672265T>C | CA351808496 | TGFBR2 | c.1082T>C (p.Leu361Pro) n.2678T>C c.1157T>C (p.Leu386Pro) c.1109T>C (p.Leu370Pro) c.1034T>C (p.Leu345Pro) c.977T>C (p.Leu326Pro) | ClinVar |
| 3 | g.30672265T>G | CA351808497 | TGFBR2 | c.1082T>G (p.Leu361Arg) n.2678T>G c.1157T>G (p.Leu386Arg) c.1109T>G (p.Leu370Arg) c.1034T>G (p.Leu345Arg) c.977T>G (p.Leu326Arg) | COSMIC COSMIC |
| 3 | g.30672266C>A | CA432917572 | TGFBR2 | c.1083C>A (p.Leu361=) n.2679C>A c.1158C>A (p.Leu386=) c.1110C>A (p.Leu370=) c.1035C>A (p.Leu345=) c.978C>A (p.Leu326=) | dbSNP |
| 3 | g.30672266C>G | CA432917570 | TGFBR2 | c.1083C>G (p.Leu361=) n.2679C>G c.1158C>G (p.Leu386=) c.1110C>G (p.Leu370=) c.1035C>G (p.Leu345=) c.978C>G (p.Leu326=) | ClinVar dbSNP |
| 3 | g.30672266C>T | CA432917571 | TGFBR2 | c.1083C>T (p.Leu361=) n.2679C>T c.1158C>T (p.Leu386=) c.1110C>T (p.Leu370=) c.1035C>T (p.Leu345=) c.978C>T (p.Leu326=) | dbSNP gnomAD v4 |
| 3 | g.30672267C>A | CA351808500 | TGFBR2 | c.1084C>A (p.His362Asn) n.2680C>A c.1159C>A (p.His387Asn) c.1111C>A (p.His371Asn) c.1036C>A (p.His346Asn) c.979C>A (p.His327Asn) | dbSNP |
| 3 | g.30672267C>G | CA351808499 | TGFBR2 | c.1084C>G (p.His362Asp) n.2680C>G c.1159C>G (p.His387Asp) c.1111C>G (p.His371Asp) c.1036C>G (p.His346Asp) c.979C>G (p.His327Asp) | |
| 3 | g.30672267C>T | CA351808498 | TGFBR2 | c.1084C>T (p.His362Tyr) n.2680C>T c.1159C>T (p.His387Tyr) c.1111C>T (p.His371Tyr) c.1036C>T (p.His346Tyr) c.979C>T (p.His327Tyr) | dbSNP COSMIC COSMIC |
| 3 | g.30672268A= | CA1354873214 | TGFBR2 | c.1085A= (p.His362=) n.2681A= c.1160A= (p.His387=) c.1112A= (p.His371=) c.1037A= (p.His346=) c.980A= (p.His327=) |