View transcript #00017

Transcript name transcript variant 1
Gene name MSH2 (mutS homolog 2)
Chromosome 2
Transcript - NCBI ID NM_000251.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000242.1
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

13 entries on 1 page. Showing entries 1 - 13.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 02 c.223_224delCT r.(?) p.(Leu75Alafs*6)
+/. 02 c.235dup r.(?) p.(Val79Glyfs*3)
+/. 03 c.613_616dup r.(?) p.(Thr206Argfs*27)
+/. 04 c.691delG r.(?) p.(Asp231Thrfs*15)
+/. 04 c.691delG r.(?) p.(Asp231Thrfs*15)
+/. 04 c.731_734dup r.(?) p.(Leu245Phefs*12)
+/. 04 c.731_734dup r.(?) p.(Leu245Phefs*12)
+/. 04 c.732delG r.(?) p.(Leu244Phefs*2)
?/. 05 c.793G>A r.(?) p.(Val265Ile)
+/. 05 c.842C>G r.(?) p.(Ser281*)
+/. 05i c.942+2T>A r.spl? p.?
+/. 05i c.942+2T>A r.spl? p.?
?/. 06 c.1045C>G r.(?) p.(Pro349Ala)
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