Transcript #00014200

Transcript name myomesin (M-protein) 2, 165kDa
Gene name MYOM2 (myomesin 2)
Chromosome 8
Transcript - NCBI ID NM_003970.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003961.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

18 entries on 1 page. Showing entries 1 - 18.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-12-5T>C benign r.spl? p.?
-/. - c.98C>A benign r.(?) p.(Ala33Glu)
-?/. - c.230C>T likely benign r.(?) p.(Thr77Met)
-/. - c.241G>A benign r.(?) p.(Glu81Lys)
-?/. - c.590C>T likely benign r.(?) p.(Ala197Val)
-?/. - c.591G>A likely benign r.(=) p.(=)
-/. - c.654-9C>T benign r.(=) p.(=)
-?/. - c.770G>A likely benign r.(?) p.(Arg257His)
?/. - c.775G>A VUS r.(?) p.(Val259Met)
-/. - c.1087G>A benign r.(?) p.(Val363Ile)
-?/. - c.1098C>T likely benign r.(=) p.(=)
-?/. - c.1617G>C likely benign - -
-?/. - c.1688C>T likely benign r.(?) p.(Thr563Met)
-?/. - c.1943G>A likely benign r.(?) p.(Cys648Tyr)
?/. - c.2730A>C VUS r.(?) p.(Arg910Ser)
?/. - c.2942C>A VUS - -
-?/. - c.3707C>T likely benign r.(?) p.(Ser1236Leu)
-/. - c.3997T>C benign r.(?) p.(Phe1333Leu)
Legend