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.30671843G>A | CA433058283 | TGFBR2 | c.660G>A (p.Leu220=) n.2256G>A c.735G>A (p.Leu245=) c.687G>A (p.Leu229=) c.612G>A (p.Leu204=) c.555G>A (p.Leu185=) | dbSNP |
| 3 | g.30671843G>C | CA433058284 | TGFBR2 | c.660G>C (p.Leu220=) n.2256G>C c.735G>C (p.Leu245=) c.687G>C (p.Leu229=) c.612G>C (p.Leu204=) c.555G>C (p.Leu185=) | |
| 3 | g.30671843G>T | CA433058285 | TGFBR2 | c.660G>T (p.Leu220=) n.2256G>T c.735G>T (p.Leu245=) c.687G>T (p.Leu229=) c.612G>T (p.Leu204=) c.555G>T (p.Leu185=) | |
| 3 | g.30671844G>A | CA351807590 | TGFBR2 | c.661G>A (p.Glu221Lys) n.2257G>A c.736G>A (p.Glu246Lys) c.688G>A (p.Glu230Lys) c.613G>A (p.Glu205Lys) c.556G>A (p.Glu186Lys) | dbSNP |
| 3 | g.30671844G>C | CA351807591 | TGFBR2 | c.661G>C (p.Glu221Gln) n.2257G>C c.736G>C (p.Glu246Gln) c.688G>C (p.Glu230Gln) c.613G>C (p.Glu205Gln) c.556G>C (p.Glu186Gln) | dbSNP |
| 3 | g.30671844G>T | CA351807592 | TGFBR2 | c.661G>T (p.Glu221Ter) n.2257G>T c.736G>T (p.Glu246Ter) c.688G>T (p.Glu230Ter) c.613G>T (p.Glu205Ter) c.556G>T (p.Glu186Ter) | |
| 3 | g.30671845A>C | CA351807595 | TGFBR2 | c.662A>C (p.Glu221Ala) n.2258A>C c.737A>C (p.Glu246Ala) c.689A>C (p.Glu230Ala) c.614A>C (p.Glu205Ala) c.557A>C (p.Glu186Ala) | |
| 3 | g.30671845A>G | CA351807593 | TGFBR2 | c.662A>G (p.Glu221Gly) n.2258A>G c.737A>G (p.Glu246Gly) c.689A>G (p.Glu230Gly) c.614A>G (p.Glu205Gly) c.557A>G (p.Glu186Gly) | |
| 3 | g.30671845A>T | CA351807594 | TGFBR2 | c.662A>T (p.Glu221Val) n.2258A>T c.737A>T (p.Glu246Val) c.689A>T (p.Glu230Val) c.614A>T (p.Glu205Val) c.557A>T (p.Glu186Val) | |
| 3 | g.30671846A>C | CA351807596 | TGFBR2 | c.663A>C (p.Glu221Asp) n.2259A>C c.738A>C (p.Glu246Asp) c.690A>C (p.Glu230Asp) c.615A>C (p.Glu205Asp) c.558A>C (p.Glu186Asp) | |
| 3 | g.30671846A>G | CA433058291 | TGFBR2 | c.663A>G (p.Glu221=) n.2259A>G c.738A>G (p.Glu246=) c.690A>G (p.Glu230=) c.615A>G (p.Glu205=) c.558A>G (p.Glu186=) | |
| 3 | g.30671846A>T | CA351807597 | TGFBR2 | c.663A>T (p.Glu221Asp) n.2259A>T c.738A>T (p.Glu246Asp) c.690A>T (p.Glu230Asp) c.615A>T (p.Glu205Asp) c.558A>T (p.Glu186Asp) | |
| 3 | g.30671847G>A | CA351807598 | TGFBR2 | c.664G>A (p.Asp222Asn) n.2260G>A c.739G>A (p.Asp247Asn) c.691G>A (p.Asp231Asn) c.616G>A (p.Asp206Asn) c.559G>A (p.Asp187Asn) | dbSNP |
| 3 | g.30671847G>C | CA351807599 | TGFBR2 | c.664G>C (p.Asp222His) n.2260G>C c.739G>C (p.Asp247His) c.691G>C (p.Asp231His) c.616G>C (p.Asp206His) c.559G>C (p.Asp187His) | dbSNP |
| 3 | g.30671847G>T | CA351807600 | TGFBR2 | c.664G>T (p.Asp222Tyr) n.2260G>T c.739G>T (p.Asp247Tyr) c.691G>T (p.Asp231Tyr) c.616G>T (p.Asp206Tyr) c.559G>T (p.Asp187Tyr) | |
| 3 | g.30671848A>C | CA351807601 | TGFBR2 | c.665A>C (p.Asp222Ala) n.2261A>C c.740A>C (p.Asp247Ala) c.692A>C (p.Asp231Ala) c.617A>C (p.Asp206Ala) c.560A>C (p.Asp187Ala) | |
| 3 | g.30671848A>G | CA351807603 | TGFBR2 | c.665A>G (p.Asp222Gly) n.2261A>G c.740A>G (p.Asp247Gly) c.692A>G (p.Asp231Gly) c.617A>G (p.Asp206Gly) c.560A>G (p.Asp187Gly) | COSMIC COSMIC |
| 3 | g.30671848A>T | CA351807602 | TGFBR2 | c.665A>T (p.Asp222Val) n.2261A>T c.740A>T (p.Asp247Val) c.692A>T (p.Asp231Val) c.617A>T (p.Asp206Val) c.560A>T (p.Asp187Val) | |
| 3 | g.30671849T>A | CA351807604 | TGFBR2 | c.666T>A (p.Asp222Glu) n.2262T>A c.741T>A (p.Asp247Glu) c.693T>A (p.Asp231Glu) c.618T>A (p.Asp206Glu) c.561T>A (p.Asp187Glu) | |
| 3 | g.30671849T>C | CA049576 | TGFBR2 | c.666T>C (p.Asp222=) n.2262T>C c.741T>C (p.Asp247=) c.693T>C (p.Asp231=) c.618T>C (p.Asp206=) c.561T>C (p.Asp187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671849T>G | CA351807605 | TGFBR2 | c.666T>G (p.Asp222Glu) n.2262T>G c.741T>G (p.Asp247Glu) c.693T>G (p.Asp231Glu) c.618T>G (p.Asp206Glu) c.561T>G (p.Asp187Glu) | |
| 3 | g.30671849T= | CA1354873028 | TGFBR2 | c.666T= (p.Asp222=) n.2262T= c.741T= (p.Asp247=) c.693T= (p.Asp231=) c.618T= (p.Asp206=) c.561T= (p.Asp187=) | |
| 3 | g.30671850G>A | CA049589 | TGFBR2 | c.667G>A (p.Asp223Asn) n.2263G>A c.742G>A (p.Asp248Asn) c.694G>A (p.Asp232Asn) c.619G>A (p.Asp207Asn) c.562G>A (p.Asp188Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30671850G>C | CA351807606 | TGFBR2 | c.667G>C (p.Asp223His) n.2263G>C c.742G>C (p.Asp248His) c.694G>C (p.Asp232His) c.619G>C (p.Asp207His) c.562G>C (p.Asp188His) | dbSNP |
| 3 | g.30671850G= | CA1354873029 | TGFBR2 | c.667G= (p.Asp223=) n.2263G= c.742G= (p.Asp248=) c.694G= (p.Asp232=) c.619G= (p.Asp207=) c.562G= (p.Asp188=) | |
| 3 | g.30671850G>T | CA351807607 | TGFBR2 | c.667G>T (p.Asp223Tyr) n.2263G>T c.742G>T (p.Asp248Tyr) c.694G>T (p.Asp232Tyr) c.619G>T (p.Asp207Tyr) c.562G>T (p.Asp188Tyr) | gnomAD v4 |
| 3 | g.30671851A>C | CA351807608 | TGFBR2 | c.668A>C (p.Asp223Ala) n.2264A>C c.743A>C (p.Asp248Ala) c.695A>C (p.Asp232Ala) c.620A>C (p.Asp207Ala) c.563A>C (p.Asp188Ala) | |
| 3 | g.30671851A>G | CA351807609 | TGFBR2 | c.668A>G (p.Asp223Gly) n.2264A>G c.743A>G (p.Asp248Gly) c.695A>G (p.Asp232Gly) c.620A>G (p.Asp207Gly) c.563A>G (p.Asp188Gly) | gnomAD v4 |
| 3 | g.30671851A>T | CA351807610 | TGFBR2 | c.668A>T (p.Asp223Val) n.2264A>T c.743A>T (p.Asp248Val) c.695A>T (p.Asp232Val) c.620A>T (p.Asp207Val) c.563A>T (p.Asp188Val) | |
| 3 | g.30671851_30671852insTGATGACAGATATGGCAACT | CA2702373505 | TGFBR2 | c.668_669insTGATGACAGATATGGCAACT (p.Arg224AspfsTer?) n.2264_2265insTGATGACAGATATGGCAACT c.743_744insTGATGACAGATATGGCAACT (p.Arg249AspfsTer?) c.695_696insTGATGACAGATATGGCAACT (p.Arg233AspfsTer?) c.620_621insTGATGACAGATATGGCAACT (p.Arg208AspfsTer?) c.563_564insTGATGACAGATATGGCAACT (p.Arg189AspfsTer?) | dbSNP |
| 3 | g.30671852C>A | CA351807611 | TGFBR2 | c.669C>A (p.Asp223Glu) n.2265C>A c.744C>A (p.Asp248Glu) c.696C>A (p.Asp232Glu) c.621C>A (p.Asp207Glu) c.564C>A (p.Asp188Glu) | gnomAD v4 |
| 3 | g.30671852C= | CA1354873030 | TGFBR2 | c.669C= (p.Asp223=) n.2265C= c.744C= (p.Asp248=) c.696C= (p.Asp232=) c.621C= (p.Asp207=) c.564C= (p.Asp188=) | |
| 3 | g.30671852C>G | CA351807612 | TGFBR2 | c.669C>G (p.Asp223Glu) n.2265C>G c.744C>G (p.Asp248Glu) c.696C>G (p.Asp232Glu) c.621C>G (p.Asp207Glu) c.564C>G (p.Asp188Glu) | dbSNP |
| 3 | g.30671852C>T | CA71527948 | TGFBR2 | c.669C>T (p.Asp223=) n.2265C>T c.744C>T (p.Asp248=) c.696C>T (p.Asp232=) c.621C>T (p.Asp207=) c.564C>T (p.Asp188=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671853C>A | CA351807614 | TGFBR2 | c.670C>A (p.Arg224Ser) n.2266C>A c.745C>A (p.Arg249Ser) c.697C>A (p.Arg233Ser) c.622C>A (p.Arg208Ser) c.565C>A (p.Arg189Ser) | |
| 3 | g.30671853C= | CA1354873031 | TGFBR2 | c.670C= (p.Arg224=) n.2266C= c.745C= (p.Arg249=) c.697C= (p.Arg233=) c.622C= (p.Arg208=) c.565C= (p.Arg189=) | |
| 3 | g.30671853C>G | CA351807613 | TGFBR2 | c.670C>G (p.Arg224Gly) n.2266C>G c.745C>G (p.Arg249Gly) c.697C>G (p.Arg233Gly) c.622C>G (p.Arg208Gly) c.565C>G (p.Arg189Gly) | |
| 3 | g.30671853C>T | CA049609 | TGFBR2 | c.670C>T (p.Arg224Cys) n.2266C>T c.745C>T (p.Arg249Cys) c.697C>T (p.Arg233Cys) c.622C>T (p.Arg208Cys) c.565C>T (p.Arg189Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30671854G>A | CA049628 | TGFBR2 | c.671G>A (p.Arg224His) n.2267G>A c.746G>A (p.Arg249His) c.698G>A (p.Arg233His) c.623G>A (p.Arg208His) c.566G>A (p.Arg189His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671854G>C | CA351807615 | TGFBR2 | c.671G>C (p.Arg224Pro) n.2267G>C c.746G>C (p.Arg249Pro) c.698G>C (p.Arg233Pro) c.623G>C (p.Arg208Pro) c.566G>C (p.Arg189Pro) | dbSNP |
| 3 | g.30671854G= | CA1354873032 | TGFBR2 | c.671G= (p.Arg224=) n.2267G= c.746G= (p.Arg249=) c.698G= (p.Arg233=) c.623G= (p.Arg208=) c.566G= (p.Arg189=) | |
| 3 | g.30671854G>T | CA351807616 | TGFBR2 | c.671G>T (p.Arg224Leu) n.2267G>T c.746G>T (p.Arg249Leu) c.698G>T (p.Arg233Leu) c.623G>T (p.Arg208Leu) c.566G>T (p.Arg189Leu) | ClinVar dbSNP |
| 3 | g.30671855C>A | CA433058309 | TGFBR2 | c.672C>A (p.Arg224=) n.2268C>A c.747C>A (p.Arg249=) c.699C>A (p.Arg233=) c.624C>A (p.Arg208=) c.567C>A (p.Arg189=) | dbSNP |
| 3 | g.30671855C>G | CA433058307 | TGFBR2 | c.672C>G (p.Arg224=) n.2268C>G c.747C>G (p.Arg249=) c.699C>G (p.Arg233=) c.624C>G (p.Arg208=) c.567C>G (p.Arg189=) | |
| 3 | g.30671855C>T | CA433058306 | TGFBR2 | c.672C>T (p.Arg224=) n.2268C>T c.747C>T (p.Arg249=) c.699C>T (p.Arg233=) c.624C>T (p.Arg208=) c.567C>T (p.Arg189=) | |
| 3 | g.30671856T>A | CA351807617 | TGFBR2 | c.673T>A (p.Ser225Thr) n.2269T>A c.748T>A (p.Ser250Thr) c.700T>A (p.Ser234Thr) c.625T>A (p.Ser209Thr) c.568T>A (p.Ser190Thr) | |
| 3 | g.30671856T>C | CA351807618 | TGFBR2 | c.673T>C (p.Ser225Pro) n.2269T>C c.748T>C (p.Ser250Pro) c.700T>C (p.Ser234Pro) c.625T>C (p.Ser209Pro) c.568T>C (p.Ser190Pro) | ClinVar dbSNP |
| 3 | g.30671856T>G | CA351807619 | TGFBR2 | c.673T>G (p.Ser225Ala) n.2269T>G c.748T>G (p.Ser250Ala) c.700T>G (p.Ser234Ala) c.625T>G (p.Ser209Ala) c.568T>G (p.Ser190Ala) | |
| 3 | g.30671856T= | CA1354873033 | TGFBR2 | c.673T= (p.Ser225=) n.2269T= c.748T= (p.Ser250=) c.700T= (p.Ser234=) c.625T= (p.Ser209=) c.568T= (p.Ser190=) | |
| 3 | g.30671857C>A | CA351807620 | TGFBR2 | c.674C>A (p.Ser225Tyr) n.2270C>A c.749C>A (p.Ser250Tyr) c.701C>A (p.Ser234Tyr) c.626C>A (p.Ser209Tyr) c.569C>A (p.Ser190Tyr) | dbSNP |