Transcript #00024230 (NM_020745.3, AARS2 gene)

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

61 entries on 1 page. Showing entries 1 - 61.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.221T>A r.(?) p.(Phe74Tyr)
-/. 1i c.243+6G>A r.(=) p.(=)
-/. 2i c.436-37G>A r.(=) p.(=)
-/. 3i c.581+16T>C r.(=) p.(=)
?/. - c.595C>T r.(?) p.(Arg199Cys)
+/. - c.647dup r.(?) p.(Cys218Leufs*6)
+?/. - c.647dup r.(?) p.(Cys218LeufsTer6)
-?/. - c.678C>T r.(?) p.(Tyr226=)
?/. - c.806G>A r.(?) p.(Gly269Asp)
-/. 5i c.895-64C>A r.(=) p.(=)
?/. - c.967G>A r.(?) p.(Val323Met)
-/. - c.1015= r.(=) p.(Val339=)
-/. 6 c.1015A>G r.(?) p.(Ile339Val)
?/. - c.1040+1G>A r.spl? p.?
-/. 6i c.1041-29A>G r.(=) p.(=)
?/. - c.1100C>A r.(?) p.(Ala367Glu)
-/. - c.1398C>T r.(?) p.(Ser466=)
-?/. - c.1398C>T r.(?) p.(Ser466=)
-?/. - c.1462C>G r.(?) p.(Gln488Glu)
?/. - c.1534G>C r.(?) p.(Asp512His)
+/. - c.1579+1G>T r.spl? p.?
+/. - c.1616A>G r.(?) p.(Tyr539Cys)
?/. - c.1621G>A r.(?) p.(Glu541Lys)
-?/. - c.1643C>T r.(?) p.(Ser548Phe)
-?/. - c.1649G>C r.(?) p.(Gly550Ala)
+?/. - c.1738C>T r.(?) p.(Arg580Trp)
?/. - c.1739G>A r.(?) p.(Arg580Gln)
-?/. - c.1752G>A r.(?) p.(Glu584=)
-/. 12i c.1753-54G>T r.(=) p.(=)
-/. 12i c.1753-14C>G r.(=) p.(=)
+/. - c.1774C>T r.(?) p.(Arg592Trp)
+/. - c.1774C>T r.(?) p.(Arg592Trp)
+/. - c.1774C>T r.(?) p.(Arg592Trp)
+?/. - c.1774C>T r.(?) p.Arg592Trp
+/. 13 c.1774C>T r.(?) p.(Arg592Trp)
+/. - c.1774C>T r.(?) p.(Arg592Trp)
+/. - c.1774C>T r.(?) p.(Arg592Trp)
+/. 13 c.1774C>T r.(?) p.(Arg592Trp)
+/. 13 c.1774C>T r.(?) p.(Arg592Trp)
?/. - c.2005C>A r.(?) p.(Gln669Lys)
-/. - c.2007+8C>T r.(=) p.(=)
+?/. - c.2027A>C r.(?) p.(Gln676Pro)
-?/. - c.2036C>T r.(?) p.(Ala679Val)
-/. 15i c.2146-24G>A r.(=) p.(=)
+?/. - c.2162T>C r.(?) p.(Val721Ala)
-/. 16 c.2188G>A r.(?) p.(Val730Met)
-?/. - c.2188G>A r.(?) p.(Val730Met)
-?/. - c.2188G>A r.(?) p.(Val730Met)
-?/. - c.2253G>A r.(?) p.(Gly751=)
-?/. - c.2253G>A r.(?) p.(Gly751=)
-/. 16i c.2255+35C>A r.(=) p.(=)
?/. - c.2579G>A r.(?) p.(Arg860His)
-/. 20 c.2607G>A r.(=) p.(=)
-?/. - c.2629C>T r.(?) p.(Arg877Trp)
-?/. - c.2682+10A>T r.(=) p.(=)
-/. - c.2683-20A>G r.(=) p.(=)
-/. 20i c.2683-20A>G r.(=) p.(=)
-?/. - c.2716C>G r.(?) p.(Gln906Glu)
-/. - c.2871A>G r.(?) p.(Ser957=)
-/. 21 c.2871A>G r.(=) p.(=)
+/. - c.2882C>T r.(?) p.(Ala961Val)
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