Transcript #00014699 (NM_024408.3, NOTCH2 gene)

Transcript name transcript variant 1
Gene name NOTCH2 (notch 2)
Chromosome 1
Transcript - NCBI ID NM_024408.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_077719.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.? r.(?) p.(Arg285His)
-/. - c.-26_-18del r.(?) p.(=)
-/. - c.-21_-20insCGGAGGAGG r.(?) p.(=)
-/. - c.-21_-20insCGGCGGAGG r.(?) p.(=)
-/. - c.-14A>C r.(?) p.(=)
-?/. - c.7G>T r.(?) p.(Ala3Ser)
-?/. - c.8C>T r.(?) p.(Ala3Val)
?/. - c.14G>T r.(?) p.(Arg5Leu)
-?/. - c.15C>G r.(?) p.(Arg5=)
-?/. - c.15C>G r.(?) p.(Arg5=)
-/. - c.15C>T r.(?) p.(Arg5=)
-/. - c.15C>T r.(?) p.(Arg5=)
-/. - c.15C>T r.(?) p.(Arg5=)
?/. - c.17_18del r.(?) p.(Pro6ArgfsTer27)
-/. - c.57C>G r.(?) p.(Cys19Trp)
-/. - c.57C>G r.(?) p.(Cys19Trp)
-/. - c.61G>A r.(?) p.(Ala21Thr)
-/. - c.61G>A r.(?) p.(Ala21Thr)
-/. - c.73+72G>A r.(=) p.(=)
-/. - c.73+118C>T r.(=) p.(=)
-/. - c.73+190C>T r.(=) p.(=)
-/. - c.73+233T>C r.(=) p.(=)
-/. - c.73+394A>G r.(=) p.(=)
-/. - c.73+450C>G r.(=) p.(=)
-/. - c.73+452G>T r.(=) p.(=)
-/. - c.112G>A r.(?) p.(Glu38Lys)
-/. - c.112G>A r.(?) p.(Glu38Lys)
?/. - c.137A>G r.(?) p.(Asn46Ser)
-/. - c.137A>G r.(?) p.(Asn46Ser)
-/. - c.137A>G r.(?) p.(Asn46Ser)
-?/. - c.194G>A r.(?) p.(Arg65Gln)
?/. - c.215G>A r.(?) p.(Arg72His)
-?/. - c.267G>A r.(?) p.(Thr89=)
-?/. - c.272G>T r.(?) p.(Arg91Leu)
-/. - c.272G>T r.(?) p.(Arg91Leu)
-?/. - c.273A>G r.(?) p.(Arg91=)
-?/. - c.312A>G r.(?) p.(Ser104=)
-?/. - c.312A>G r.(?) p.(Ser104=)
-?/. - c.312A>G r.(?) p.(Ser104=)
-/. - c.342C>T r.(?) p.(Pro114=)
-?/. - c.354C>T r.(?) p.(Gly118=)
-?/. - c.415+26G>C r.(=) p.(=)
-?/. - c.423G>A r.(?) p.(Glu141=)
-?/. - c.435G>A r.(?) p.(Thr145=)
-?/. - c.435G>A r.(?) p.(Thr145=)
-?/. - c.435G>C r.(?) p.(Thr145=)
-/. - c.456C>T r.(?) p.(Pro152=)
-?/. - c.456C>T r.(?) p.(Pro152=)
-/. - c.456C>T r.(?) p.(Pro152=)
-?/. - c.487G>A r.(?) p.(Ala163Thr)
?/. - c.532A>G r.(?) p.(Lys178Glu)
-?/. - c.534A>G r.(?) p.(Lys178=)
?/. - c.545A>T r.(?) p.(Asp182Val)
?/. - c.751+3A>G r.spl? p.?
-/. - c.751+289G>A r.(=) p.(=)
-?/. - c.786T>C r.(?) p.(Asp262=)
+?/. - c.854G>A r.(?) p.(Arg285His)
?/. - c.863C>A r.(?) p.(Pro288Gln)
+?/. - c.1063G>A r.(?) p.(Asp355Asn)
-?/. - c.1108+14G>A r.(=) p.(=)
-/. - c.1108+30A>G r.(=) p.(=)
-?/. - c.1183C>T r.(?) p.(Leu395=)
?/. - c.1188del r.(?) p.(Asn396LysfsTer39)
?/. - c.1235G>T r.(?) p.(Cys412Phe)
-/. - c.1265-128del r.(=) p.(=)
?/. - c.1274A>G r.(?) p.(Asn425Ser)
-?/. - c.1315G>A r.(?) p.(Ala439Thr)
+/? 8 c.1331G>A r.(?) p.(Cys444Tyr)
+/? 8 c.1331G>A r.(?) p.(Cys444Tyr)
+/? 8 c.1331G>A r.(?) p.(Cys444Tyr)
-?/. - c.1356T>C r.(?) p.(Arg452=)
?/. - c.1396C>A r.(?) p.(Gln466Lys)
-?/. - c.1567+8C>T r.(=) p.(=)
-/. - c.1568-17C>T r.(=) p.(=)
-/. - c.1568-17C>T r.(=) p.(=)
-?/. - c.1575T>C r.(?) p.(Thr525=)
-?/. - c.1804G>A r.(?) p.(Ala602Thr)
-?/. - c.1804G>A r.(?) p.(Ala602Thr)
+?/. - c.1915+2T>G r.spl? p.?
?/. - c.1918G>T r.(?) p.(Val640Phe)
-?/. - c.2026+6G>T r.(=) p.(=)
-?/. - c.2026+6G>T r.(=) p.(=)
?/. - c.2039A>G r.(?) p.(Asn680Ser)
-?/. - c.2042T>A r.(?) p.(Ile681Asn)
-?/. - c.2388T>A r.(?) p.(Ile796=)
-?/. - c.2480-18_2480-17del r.(=) p.(=)
?/. - c.2753A>G r.(?) p.(Asn918Ser)
-?/. - c.2824A>G r.(?) p.(Thr942Ala)
-?/. - c.2901C>T r.(?) p.(Tyr967=)
?/. - c.2933G>C r.(?) p.(Gly978Ala)
?/. - c.2948A>G r.(?) p.(His983Arg)
-?/. - c.2982-3T>C r.spl? p.?
-/. - c.3117G>A r.(?) p.(Thr1039=)
-?/. - c.3196C>G r.(?) p.(Leu1066Val)
-?/. - c.3205C>A r.(?) p.(Arg1069=)
-/. - c.3234C>T r.(?) p.(Cys1078=)
-/. - c.3234C>T r.(?) p.(Cys1078=)
-?/. - c.3479A>G r.(?) p.(His1160Arg)
-/. - c.3479A>G r.(?) p.(His1160Arg)
-?/. - c.3479A>G r.(?) p.(His1160Arg)
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