Transcript #00000025

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


Variants

235 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-1G>C r.(=) p.(=)
?/? c.8C>T r.(?) p.(Ala3Val)
?/? c.29G>A r.(?) p.(Arg10Gln)
?/? c.31_39del r.(?) p.(Leu12_Arg14del)
?/? c.162T>C r.(=) p.(=)
?/? c.176_193del r.(?) p.(Val59_Arg65delinsGly)
?/? c.230C>T r.(?) p.(Ala77Val)
?/? c.243+6G>A r.(=) p.(=)
?/? c.243+19T>C r.(=) p.(=)
?/? c.244-45G>T r.(=) p.(=)
?/? c.244-24C>G r.(=) p.(=)
?/? c.244-19C>G r.(=) p.(=)
?/? c.244-7C>T r.(=) p.(=)
?/? c.244-3C>T r.spl? p.?
?/? c.253A>G r.(?) p.(Ile85Val)
?/? c.349G>A r.(?) p.(Asp117Asn)
?/? c.384T>C r.(=) p.(=)
?/? c.420G>A r.(=) p.(=)
?/? c.422G>A r.(?) p.(Gly141Asp)
?/? c.435+9C>T r.(=) p.(=)
?/? c.435+40C>T r.(=) p.(=)
?/? c.436-37G>A r.(=) p.(=)
?/? c.436-31_436-30insT r.(=) p.(=)
?/? c.436-30dup r.(=) p.(=)
?/? c.436-25C>T r.(=) p.(=)
?/? c.436-25_436-24insC r.(=) p.(=)
?/? c.436-15T>G r.(=) p.(=)
?/? c.487C>T r.(?) p.(Pro163Ser)
?/? c.496A>T r.(?) p.(Arg166Trp)
?/? c.523G>A r.(?) p.(Asp175Asn)
?/? c.581+16T>C r.(=) p.(=)
?/? c.581+21T>C r.(=) p.(=)
?/? c.581+22G>A r.(=) p.(=)
?/? c.581+51A>G r.(=) p.(=)
?/? c.582-36G>A r.(=) p.(=)
?/? c.582-34C>T r.(=) p.(=)
?/? c.582-32G>A r.(=) p.(=)
?/? c.595C>T r.(?) p.(Arg199Cys)
?/? c.673C>T r.(?) p.(His225Tyr)
?/? c.678C>T r.(=) p.(=)
?/? c.749+14G>A r.(=) p.(=)
?/? c.750-27C>T r.(=) p.(=)
?/? c.750-5G>A r.spl? p.?
?/? c.785G>A r.(?) p.(Arg262Gln)
?/? c.834A>C r.(?) p.(Gln278His)
?/? c.861C>A r.(?) p.(Asp287Glu)
?/? c.882C>T r.(=) p.(=)
?/? c.888A>G r.(?) p.(Ile296Met)
?/? c.895-16C>T r.(=) p.(=)
?/? c.897C>T r.(=) p.(=)
?/? c.903G>T r.(?) p.(Arg301Ser)
?/? c.923G>A r.(?) p.(Arg308Gln)
?/? c.956C>T r.(?) p.(Thr319Ile)
?/? c.985C>T r.(?) p.(Arg329Cys)
?/? c.1015A>G N/A N/A
?/? c.1040+28C>T r.(=) p.(=)
?/? c.1040+41G>C r.(=) p.(=)
?/? c.1041-43A>G r.(=) p.(=)
?/? c.1041-37C>T r.(=) p.(=)
?/? c.1041-29A>G r.(=) p.(=)
?/? c.1041-24T>C r.(=) p.(=)
?/? c.1041-23G>C r.(=) p.(=)
?/? c.1067G>A r.(?) p.(Arg356Gln)
?/? c.1076G>A r.(?) p.(Arg359His)
?/? c.1084A>T r.(?) p.(Met362Leu)
?/? c.1128A>T r.(=) p.(=)
?/? c.1149+31C>A r.(=) p.(=)
?/? c.1149+36C>A r.(=) p.(=)
?/? c.1150-4C>G r.spl? p.?
?/? c.1156G>A r.(?) p.(Ala386Thr)
?/? c.1157C>T r.(?) p.(Ala386Val)
?/? c.1162C>T r.(?) p.(Pro388Ser)
?/? c.1173A>G r.(=) p.(=)
?/? c.1188+36G>A r.(=) p.(=)
?/? c.1188+47G>C r.(=) p.(=)
?/? c.1189-16_1189-14del r.(=) p.(=)
?/? c.1192G>A r.(?) p.(Ala398Thr)
?/? c.1196A>G r.(?) p.(Asn399Ser)
?/? c.1241G>A r.(?) p.(Arg414Gln)
?/? c.1244G>A r.(?) p.(Gly415Asp)
?/? c.1249C>A r.(=) p.(=)
?/? c.1268T>C r.(?) p.(Leu423Pro)
?/? c.1300+9G>T r.(=) p.(=)
?/? c.1300+36G>A r.(=) p.(=)
?/? c.1301-23T>G r.(=) p.(=)
?/? c.1324C>T r.(=) p.(=)
?/? c.1350G>A r.(=) p.(=)
?/? c.1366A>G r.(?) p.(Met456Val)
?/? c.1398C>T r.(=) p.(=)
?/? c.1399G>A r.(?) p.(Ala467Thr)
?/? c.1412G>A r.(?) p.(Arg471Gln)
?/? c.1434+22G>C r.(=) p.(=)
?/? c.1434+29del r.(=) p.(=)
?/? c.1435-46C>A r.(=) p.(=)
?/? c.1435-25T>C r.(=) p.(=)
?/? c.1435-14T>C r.(=) p.(=)
?/? c.1435-11C>T r.(=) p.(=)
?/? c.1435-9A>G r.(=) p.(=)
?/? c.1438C>T r.(?) p.(Arg480Trp)
?/? c.1468C>T r.(?) p.(Gln490*)
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