Transcript #00000426

Transcript name transcript variant 1
Gene name AK2 (adenylate kinase 2)
Chromosome 1
Transcript - NCBI ID NM_001625.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001616.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

30 entries on 1 page. Showing entries 1 - 30.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 1/6 c.1A>G p.? - initiator_codon_variant - -
./. - - c.1A>G p.? - - - -
./. - 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 - -
./. - - c.307C>T p.(Arg103Trp) - - - -
+/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
./. - - c.386G>A p.(Ser129Asn) - - - -
./. - - c.453del p.(Tyr152Thrfs*12) - - - -
+/+ - 5/6 c.494A>G p.(Asp165Gly) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.494A>G p.(Asp165Gly) - - - -
./. - - c.504C>T p.(=) - - - -
./. - - c.523del p.(Arg175Aspfs*9) - - - -
+/+ - 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.556C>T p.(Arg186Cys) - - - -
./. - - c.571C>G p.(His191Asp) - - - -
./. - - c.603C>T p.(=) - - - -
./. - - c.625G>A p.(Ala209Thr) - - - -
./. - - c.630C>T p.(=) - - - -
+/+ - 6/6 c.697A>T p.(Lys233*) - stop_gained - -
./. - - c.697A>T p.(Lys233*) - - - -
Legend