Transcript #00000017

Transcript name transcript variant X1
Gene name AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
Chromosome 6
Transcript - NCBI ID XM_005249245.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005249302.1
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     
./. - - c.464T>G - r.(?) p.(Leu155Arg) - - - -
+/+ - 3/22 c.464T>G - r.(?) p.(Leu155Arg) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.647_648insG - r.(?) p.(Cys218Leufs*6) - - - -
./. - - c.647_648insG - r.(?) p.(Cys218Leufs*6) - - - -
./. - - c.750-273C>T - r.(=) p.(=) - - - -
./. - - c.1243G>C - r.(?) p.(Asp415His) - - - -
./. - - c.1270C>T - r.(?) p.(Arg424*) - - - -
./. - - c.1369C>T - r.(?) p.(Arg457Cys) - - - -
+/+ - 11/20 c.1483C>T - r.(?) p.(Arg495Trp) - missense_variant - -
./. - - c.1483C>T - r.(?) p.(Arg495Trp) - - - -
./. - - c.2065G>A - r.(?) p.(Ala689Thr) - - - -
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