View transcript #00000004

Transcript name transcript variant 2
Gene name TGFBR2 (transforming growth factor, beta receptor II (70/80kDa))
Chromosome 3
Transcript - NCBI ID NM_003242.5
Transcript - Ensembl ID ENST00000295754
Protein - NCBI ID NP_003233.4
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

243 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 0 t(1;5;4)(p35; q33.2;q35),ins(3)(q11.2;p24.1p14.2) r.(?) p.XXX
+/+ 3 c.287C>T r.(?) p.(Thr96Ile)
./. 3 c.383del r.(?) p.(Lys128Serfs*35)
+/+ 3 c.412T>C r.(?) p.(Cys138Arg)
+/+ 4 c.761G>A r.(?) p.(Arg254His)
+/+ 4 c.773T>G r.(?) p.(Val258Gly)
+/+ 4 c.797A>G r.(?) p.(Asn266Ser)
./. 4 c.826G>T r.(?) p.(Val276Phe)
./. 4 c.827T>A r.(?) p.(Val276Asp)
./. 4 c.827T>A r.(?) p.(Val276Asp)
./. 4 c.830A>G r.(?) p.(Lys277Arg)
+/+ 4 c.842A>T r.(?) p.(Tyr281Phe)
+/+ 4 c.842A>T r.(?) p.(Tyr281Phe)
+/+ 4 c.859T>C r.(?) p.(Trp287Arg)
+/+ 4 c.865_873delACAGAGAAG r.(?) p.(Thr289_Lys291del)
+/+ 4 c.873G>A r.(=) p.(=)
+/+ 4 c.915_916delinsTCATG r.(?) p.(Gln306delinsHisGlu)
+/+ 4 c.923T>C r.(?) p.(Leu308Pro)
+/+ 4 c.923T>C r.(?) p.(Leu308Pro)
+/+ 4 c.944C>T r.(?) p.(Thr315Met)
+/+ 4 c.973_975delACC r.(?) p.(Thr325del)
+/+ 4 c.1040T>C r.(?) p.(Leu347Pro)
+/+ 4 c.1052G>A r.(?) p.(Gly351Asp)
+/+ 4 c.1063G>C r.(?) p.(Ala355Pro)
+/+ 4 c.1063G>C r.(?) p.(Ala355Pro)
+/+ 4 c.1067G>C r.(?) p.(Arg356Pro)
+/+ 4 c.1067G>C r.(?) p.(Arg356Pro)
+/+ 4 c.1067G>C r.(?) p.(Arg356Pro)
./. 4 c.1067G>C r.(?) p.(Arg356Pro)
+/+ 4 c.1079A>C r.(?) p.(His360Pro)
+/+ 4 c.1079A>C r.(?) p.(His360Pro)
+/+ 4 c.1085A>G r.(?) p.(His362Arg)
+/+ 4 c.1115A>G r.(?) p.(Lys372Arg)
+/+ 4 c.1115A>G r.(?) p.(Lys372Arg)
+/+ 4 c.1115A>G r.(?) p.(Lys372Arg)
+/+ 4 c.1126G>A r.(?) p.(Val376Met)
+/+ 4 c.1130A>C r.(?) p.(His377Pro)
+/+ 4 c.1130A>G r.(?) p.(His377Arg)
+/+ 4 c.1132A>G r.(?) p.(Arg378Gly)
./. 4 c.1139T>G r.(?) p.(Leu380Arg)
+/+ 4 c.1145G>A r.(?) p.(Ser382Asn)
+/+ 4 c.1150A>G r.(?) p.(Asn384Asp)
+/+ 4 c.1151A>G r.(?) p.(Asn384Ser)
+/+ 4 c.1159G>A r.(?) p.(Val387Met)
+/+ 4 c.1159G>C r.(?) p.(Val387Leu)
+/+ 4 c.1181G>A r.(?) p.(Cys394Tyr)
+/+ 4 c.1182C>G r.(?) p.(Cys394Trp)
+/+ 4 c.1187G>A r.(?) p.(Cys396Tyr)
+/+ 4 c.1188T>G r.(?) p.(Cys396Trp)
./. 4 c.1193T>C r.(?) p.(Phe398Ser)
+/+ 4 c.1195G>C r.(?) p.(Gly399Arg)
+/+ 4 c.1205T>C r.(?) p.(Leu402Pro)
+/+ 4 c.1205T>C r.(?) p.(Leu402Pro)
+/+ 4 c.1240G>A r.(?) p.(Ala414Thr)
+/+ 4 c.1240G>C r.(?) p.(Ala414Pro)
./. 4 c.1240G>C r.(?) p.(Ala414Pro)
+/+ 4 c.1241C>A r.(?) p.(Ala414Asp)
./. 5 c.1241C>A r.(?) p.(Ala414Asp)
./. 5 c.1241C>A r.(?) p.(Ala414Asp)
+/+ 6 c.1270T>G r.(?) p.(Tyr424Asp)
./. 5 c.1270T>C r.(?) p.(Tyr424His)
+/+ 5 c.1273A>G r.(?) p.(Met425Val)
+/+ 5 c.1273A>G r.(?) p.(Met425Val)
+/+ 5 c.1273A>G r.(?) p.(Met425Val)
+/+ 5 c.1274T>G r.(?) p.(Met425Arg)
+/+ 5 c.1276G>A r.(?) p.(Ala426Thr)
+/+ 5 c.1279C>T r.(?) p.(Pro427Ser)
+/+ 5 c.1301T>A r.(?) p.(Met434Lys)
+/+ 5 c.1318G>A r.(?) p.(Glu440Lys)
+/+ 5 c.1322C>T r.(?) p.(Ser441Phe)
+/+ 5 c.1324T>C r.(?) p.(Phe442Leu)
+/+ 5 c.1324T>C r.(?) p.(Phe442Leu)
+/+ 5 c.1324T>G r.(?) p.(Phe442Val)
+/+ 5 c.1330C>A r.(?) p.(Gln444Lys)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 7 c.1336G>A r.(?) p.(Asp446Asn)
+/+ 5 c.1336G>C r.(?) p.(Asp446His)
+/+ 5 c.1336G>C r.(?) p.(Asp446His)
+/+ 5 c.1336G>T r.(?) p.(Asp446Tyr)
./. 5 c.1336G>A r.(?) p.(Asp446Asn)
./. 5 c.1336G>A r.(?) p.(Asp446Asn)
./. 5 c.1337A>G r.(?) p.(Asp446Gly)
+/+ 5 c.1346C>T r.(?) p.(Ser449Phe)
+/+ 5 c.1346C>T r.(?) p.(Ser449Phe)
+/+ 5 c.1351_1356del r.(?) p.(Ala451_Leu452del)
+/+ 5 c.1352_1357delCTCTGG r.(?) p.(Ala451_Leu452del)
+/+ 5 c.1358T>A r.(?) p.(Val453Glu)
+/+ 5 c.1358T>A r.(?) p.(Val453Glu)
+/+ 5 c.1358T>A r.(?) p.(Val453Glu)
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