Transcript #00000423

Transcript name transcript variant 3
Gene name AK2 (adenylate kinase 2)
Chromosome 1
Transcript - NCBI ID NM_001199199.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001186128.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

30 entries on 1 page. Showing entries 1 - 30.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.1A>G p.? - - - -
+/+ - 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.25G>T p.(Glu9*) - - - -
./. - - c.49C>G p.(Arg17Gly) - - - -
./. - - c.118del p.(Cys40Valfs*5) - - - -
+/+ - - c.118del p.(Cys40Valfs*5) - - - -
./. - - c.199A>G p.(Thr67Ala) - - - -
./. - - c.220-5del p.? - - - -
./. - - c.255G>A p.(=) - - - -
./. - - c.277A>G p.(Lys93Glu) - - - -
+/+ - 3/6 c.307C>A p.(=) - synonymous_variant - -
+/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
./. - - c.307C>T p.(Arg103Trp) - - - -
./. - - c.386G>A p.(Ser129Asn) - - - -
./. - - c.429del p.(Tyr144Thrfs*12) - - - -
./. - - c.470A>G p.(Asp157Gly) - - - -
+/+ - 5/6 c.470A>G p.(Asp157Gly) - missense_variant - -
./. - - c.480C>T p.(=) - - - -
./. - - c.499del p.(Arg167Aspfs*9) - - - -
+/+ - 6/6 c.524T>A p.(Leu175*) - stop_gained - -
+/+ - 6/6 c.532C>T p.(Arg178Cys) - missense_variant - -
./. - - c.532C>T p.(Arg178Cys) - - - -
./. - - c.547C>G p.(His183Asp) - - - -
./. - - c.579C>T p.(=) - - - -
./. - - c.601G>A p.(Ala201Thr) - - - -
./. - - c.606C>T p.(=) - - - -
+/+ - - c.670+3A>T p.? - - - -
./. - - c.670+3A>T p.? - - - -
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