Transcript #00024230

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 -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. 1i c.243+6G>A - r.(=) p.(=)
-/. 2i c.436-37G>A - r.(=) p.(=)
-/. 3i c.581+16T>C - r.(=) p.(=)
?/. - c.595C>T VUS r.(?) p.(Arg199Cys)
-?/. - c.738G>T likely benign r.(?) p.(Met246Ile)
-/. 5i c.895-64C>A - r.(=) p.(=)
-/. - c.1015A>G benign r.(?) p.(Ile339Val)
-/. 6 c.1015A>G - r.(?) p.(Ile339Val)
?/. - c.1040+1G>A VUS r.spl? p.?
-/. 6i c.1041-29A>G - r.(=) p.(=)
-?/. - c.1055G>A likely benign r.(?) p.(Arg352Gln)
?/. - c.1100C>A VUS r.(?) p.(Ala367Glu)
-?/. - c.1196A>G likely benign r.(?) p.(Asn399Ser)
-?/. - c.1398C>T likely benign r.(?) p.(=)
-?/. - c.1462C>G likely benign r.(?) p.(Gln488Glu)
+/. - c.1579+1G>T pathogenic r.spl? p.?
?/. - c.1738C>T VUS r.(?) p.(Arg580Trp)
?/. - c.1739G>A VUS r.(?) p.(Arg580Gln)
-?/. - c.1752G>A likely benign r.(?) p.(=)
-/. 12i c.1753-54G>T - r.(=) p.(=)
-/. 12i c.1753-14C>G - r.(=) p.(=)
+?/. - c.1774C>T - r.(?) p.Arg592Trp
+/. 13 c.1774C>T - r.(?) p.(Arg592Trp)
+/. 13 c.1774C>T - r.(?) p.(Arg592Trp)
+/. 13 c.1774C>T - r.(?) p.(Arg592Trp)
?/. - c.2005C>A VUS r.(?) p.(Gln669Lys)
-/. - c.2007+8C>T benign r.(=) p.(=)
+?/. - c.2027A>C likely pathogenic r.(?) p.(Gln676Pro)
-?/. - c.2036C>T likely benign r.(?) p.(Ala679Val)
-/. 15i c.2146-24G>A - r.(=) p.(=)
-/. 16 c.2188G>A - r.(?) p.(Val730Met)
-?/. - c.2210C>G likely benign r.(?) p.(Ala737Gly)
-?/. - c.2253G>A likely benign r.(?) p.(=)
-?/. - c.2253G>A likely benign r.(?) p.(=)
-/. 16i c.2255+35C>A - r.(=) p.(=)
?/. - c.2348G>C VUS r.(?) p.(Gly783Ala)
-?/. - c.2426T>A likely benign r.(?) p.(Leu809Gln)
-?/. - c.2440G>A likely benign r.(?) p.(Val814Met)
?/. - c.2579G>A VUS r.(?) p.(Arg860His)
-/. 20 c.2607G>A - r.(=) p.(=)
-?/. - c.2629C>T likely benign r.(?) p.(Arg877Trp)
-/. - c.2683-20A>G benign r.(=) p.(=)
-/. 20i c.2683-20A>G - r.(=) p.(=)
-?/. - c.2716C>G likely benign r.(?) p.(Gln906Glu)
-/. - c.2871A>G benign r.(?) p.(=)
-/. 21 c.2871A>G - r.(=) p.(=)
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