Transcript #00000006

Transcript name alanyl-tRNA synthetase 2, mitochondrial
Gene name AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
Chromosome 6
Transcript - NCBI ID NM_020745.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_065796.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 3/22 c.464T>G - r.(?) p.(Leu155Arg) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.464T>G - r.(?) p.(Leu155Arg) - - - -
./. - - c.647_648insG - r.(?) p.(Cys218Leufs*6) - - - -
./. - - c.647_648insG - r.(?) p.(Cys218Leufs*6) - - - -
./. - - c.985C>T - r.(?) p.(Arg329Cys) - - - -
./. - - c.1534G>C - r.(?) p.(Asp512His) - - - -
./. - - c.1561C>T - r.(?) p.(Arg521*) - - - -
./. - - c.1660C>T - r.(?) p.(Arg554Cys) - - - -
./. - - c.1774C>T - r.(?) p.(Arg592Trp) - - - -
+/+ - 13/22 c.1774C>T - r.(?) p.(Arg592Trp) possibly_damaging(0.806) missense_variant - deleterious(0)
./. - - c.2356G>A - r.(?) p.(Ala786Thr) - - - -
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