Transcript #00010248 (NM_002226.4, JAG2 gene)

Transcript name transcript variant 1
Gene name JAG2 (jagged 2)
Chromosome 14
Transcript - NCBI ID NM_002226.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_002217.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_26_ c.-403_*1714{0} r.0? p.0?
+/. - c.221G>C r.(?) p.(Cys74Ser)
+/. - c.221G>C r.(?) p.(Cys74Ser)
+/. - c.283A>G r.(?) p.(Thr95Ala)
+/. - c.490G>A r.(?) p.(Glu164Lys)
+/. - c.493C>T r.(?) p.(Arg165Ter)
+/. - c.728C>A r.(?) p.(Ala243Asp)
+/. - c.728C>A r.(?) p.(Ala243Asp)
+/. - c.1073A>T r.(?) p.(Asn358Ile)
+/. - c.1073A>T r.(?) p.(Asn358Ile)
+/. - c.1073A>T r.(?) p.(Asn358Ile)
+/. - c.1245_1246del r.(?) p.(Trp415CysfsTer11)
+?/. - c.1791G>A r.(?) p.(Met597Ile)
+?/. - c.2044C>T r.(?) p.(Pro682Ser)
+?/. - c.2044C>T r.(?) p.(Pro682Ser)
+?/. - c.2044C>T r.(?) p.(Pro682Ser)
+/. - c.2105_2107del r.(?) p.(Asp702del)
+/. - c.2105_2107del r.(?) p.(Asp702del)
+/. - c.2134C>T r.(?) p.(Arg712Cys)
+/. - c.2134C>T r.(?) p.(Arg712Cys)
+/. - c.2134C>T r.(?) p.(Arg712Cys)
?/. - c.2168A>G r.(?) p.(Asn723Ser)
+/. - c.2473C>T r.(?) p.(Arg825Cys)
+/. - c.2515G>A r.(?) p.(Gly839Arg)
+/. - c.2515G>A r.(?) p.(Gly839Arg)
+/. - c.2515G>A r.(?) p.(Gly839Arg)
+/. - c.2515G>A r.(?) p.(Gly839Arg)
+/. - c.2515G>A r.(?) p.(Gly839Arg)
+/. - c.2515G>A r.(?) p.(Gly839Arg)
+/. - c.2930T>C r.(?) p.(Phe977Ser)
-?/. - c.3024C>T r.(?) p.(Arg1008=)
+/. - c.3143_3147dup r.(?) p.(Val1050ProfsTer322)
+/. - c.3143_3147dup r.(?) p.(Val1050ProfsTer322)
-?/. - c.3476G>A r.(?) p.(Arg1159His)
?/. - c.3541G>A r.(?) p.(Glu1181Lys)
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