Transcript #00000413

Transcript name transcript variant 2
Gene name GYG2 (glycogenin 2)
Chromosome X
Transcript - NCBI ID NM_003918.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003909.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-128-51T>C - - p.(=)
?/. - c.-128-51T>C - - p.(=)
?/. - c.7+17G>C - - p.(=)
?/. - c.7+17G>C - - p.(=)
?/. - c.7+56C>G - - p.(=)
?/. - c.7+56C>G - - p.(=)
?/. - c.7+185G>A - - p.(=)
?/. - c.7+185G>A - - p.(=)
?/. 4 c.112C>T - r.(?) H7Y
-?/. - c.235C>G likely benign r.(?) p.(Leu79Val)
?/. - c.417+203T>G - - p.(=)
?/. - c.417+203T>G - - p.(=)
?/. - c.418-262T>C - - p.(=)
?/. - c.418-262T>C - - p.(=)
?/. - c.418-242C>T - - p.(=)
?/. - c.418-242C>T - - p.(=)
?/. - c.581-61A>G - - p.(=)
?/. - c.581-61A>G - - p.(=)
-?/. - c.704A>G likely benign r.(?) p.(Lys235Arg)
?/. - c.707+128G>C - - p.(=)
?/. - c.707+128G>C - - p.(=)
?/. - c.707+175_707+176insATCT - - p.(=)
?/. - c.707+175_707+176insATCT - - p.(=)
?/. - c.707+190_707+191insTATC - - p.(=)
?/. - c.707+190_707+191insTATC - - p.(=)
-?/. 8 c.744G>A - r.(?) p.(=)
?/. - c.809C>T - - p.(Ala270Val)
?/. - c.809C>T - - p.(Ala270Val)
-?/. - c.832G>A likely benign r.(?) p.(Ala278Thr)
?/. 8 c.902C>T - r.(?) A270V
?/. - c.904del VUS r.(?) p.(Glu302Lysfs*61)
?/. - c.930+216G>A - - p.(=)
?/. - c.930+216G>A - - p.(=)
?/. - c.931-233T>C - - p.(=)
?/. - c.931-233T>C - - p.(=)
?/. - c.938A>G - - p.(His313Arg)
?/. - c.938A>G - - p.(His313Arg)
?/. 9 c.1031A>G - r.(?) H313R
-?/. - c.1043G>A likely benign r.(?) p.(Gly348Asp)
-?/. - c.1117C>T likely benign r.(?) p.(Arg373Cys)
?/. - c.1131+356_1131+357insGGAA - - p.(=)
?/. - c.1131+356_1131+357insGGAA - - p.(=)
?/. - c.1131+361_1131+362insGAAG - - p.(=)
?/. 10 c.1210C>T - r.(?) R373C
?/. - c.1232T>C VUS r.(?) p.(Ile411Thr)
?/. - c.1236+139_1236+147del - - p.(=)
?/. - c.1236+139_1236+147del - - p.(=)
?/. - c.1236+140_1236+147del - - p.(=)
?/. - c.1236+140_1236+147del - - p.(=)
?/. - c.1261G>A VUS r.(?) p.(Val421Ile)
-?/. - c.1269C>T likely benign r.(?) p.(=)
?/. - c.*1041G>C - - p.(=)
?/. - c.*1041G>C - - p.(=)
?/. - c.*1370G>T - - p.(=)
?/. - c.*1370G>T - - p.(=)
?/. - c.*1423A>G - - p.(=)
?/. - c.*1423A>G - - p.(=)
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