Transcript #00000424

Transcript name transcript variant 2
Gene name AK2 (adenylate kinase 2)
Chromosome 1
Transcript - NCBI ID NM_013411.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_037543.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 1/6 c.1A>G p.? - initiator_codon_variant - -
./. - 1/6 c.25G>A p.(Glu9Lys) - missense_variant - -
+/+ - 1/6 c.25G>T p.(Glu9*) - stop_gained - -
+/+ - - c.118del p.(Cys40Valfs*5) - - - -
./. - - c.219G>C p.(=) - - - -
+/+ - 3/6 c.307C>A p.(=) - synonymous_variant - -
+/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
+/+ - 5/6 c.494A>G p.(Asp165Gly) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 6/6 c.548T>A p.(Leu183*) - stop_gained - -
+/+ - 6/6 c.556C>T p.(Arg186Cys) benign(0.015) missense_variant - deleterious(0.02)
./. - - c.625G>A p.(Ala209Thr) - - - -
+/+ - - c.694+3A>T p.? - - - -
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