Transcript #00006969 (NM_014239.3, EIF2B2 gene)

Transcript name eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
Gene name EIF2B2 (eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa)
Chromosome 14
Transcript - NCBI ID NM_014239.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055054.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

23 entries on 1 page. Showing entries 1 - 23.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.5C>T r.(?) p.(Pro2Leu)
-?/. - c.115C>T r.(?) p.(Leu39=)
+/. - c.254T>A r.(?) p.(Val85Glu)
-?/. - c.380C>T r.(?) p.(Ala127Val)
?/. - c.397A>T r.(?) p.(Ile133Phe)
+?/. 3i c.433+2T>G r.spl p.?
+/. - c.512C>T r.(?) p.(Ser171Phe)
+?/. - c.514C>T r.(?) p.(Arg172Ter)
+/. - c.586C>T r.(?) p.(Pro196Ser)
+?/. - c.586C>T r.(?) p.(Pro196Ser)
+?/. - c.599G>T r.(?) p.(Gly200Val)
+/. 5 c.599G>T r.(?) p.(Gly200Val)
+/. - c.599G>T r.(?) p.(Gly200Val)
+/. - c.599G>T r.(?) p.(Gly200Val)
?/. - c.634A>G r.(?) p.(Ile212Val)
+/+? - c.638A>G r.(?) p.(Glu213Gly)
+/+? - c.638A>G r.(?) p.(Glu213Gly)
?/. - c.754C>T r.(?) p.(His252Tyr)
+/. - c.803G>A r.(?) p.(Cys268Tyr)
+/. - c.818A>G r.(?) p.(Lys273Arg)
?/. - c.826C>T r.(?) p.(Pro276Ser)
+/. - c.947T>A r.(?) p.(Val316Asp)
+/. - c.986G>T r.(?) p.(Gly329Val)
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