Transcript #00001750

Transcript name isoleucyl-tRNA synthetase 2, mitochondrial
Gene name IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial)
Chromosome 1
Transcript - NCBI ID NM_018060.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060530.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

43 entries on 1 page. Showing entries 1 - 43.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.23G>T r.(?) p.(Arg8Leu)
./. - c.41C>T r.(?) p.(Ala14Val)
./. - c.111G>C r.(=) p.(=)
./. - c.267+9C>T r.(=) p.(=)
./. - c.268-7A>T r.(=) p.(=)
./. - c.390+7A>G r.(=) p.(=)
./. - c.390+10A>G r.(=) p.(=)
./. - c.391-85_391-24del r.(=) p.(=)
./. - c.405A>T r.(=) p.(=)
./. - c.551-38A>T r.(=) p.(=)
./. - c.699+40G>A r.(=) p.(=)
./. - c.700-36A>G r.(=) p.(=)
./. - c.700-11G>C r.(=) p.(=)
./. - c.942T>C r.(=) p.(=)
./. - c.1164G>A r.(=) p.(=)
./. - c.1328-15del r.spl? p.?
./. - c.1564A>G r.(?) p.(Ile522Val)
./. - c.1640+3598_1640+3599insTC r.(=) p.(=)
./. - c.1640+3602T>C r.(=) p.(=)
./. - c.1640+3665C>T r.(=) p.(=)
./. - c.1640+3671T>C r.(=) p.(=)
./. - c.1640+3812G>A r.(=) p.(=)
./. - c.1640+3897C>T r.(=) p.(=)
./. - c.1726A>G r.(?) p.(Lys576Glu)
./. - c.1744-57T>C r.(=) p.(=)
./. - c.1837+27G>A r.(=) p.(=)
./. - c.1838-68A>G r.(=) p.(=)
./. - c.1838-21C>T r.(=) p.(=)
./. - c.1882C>T r.(?) p.(Leu628Phe)
./. - c.1946+43T>C r.(=) p.(=)
./. - c.2049+94A>C r.(=) p.(=)
./. - c.2111A>T r.(?) p.(Asn704Ile)
./. - c.2176-47G>A r.(=) p.(=)
./. - c.2247A>C r.(=) p.(=)
./. - c.2307+57A>G r.(=) p.(=)
./. - c.2308-28del r.(=) p.(=)
./. - c.2415-169C>T r.(=) p.(=)
./. - c.2691T>C r.(=) p.(=)
./. - c.2804T>C r.(?) p.(Met935Thr)
./. - c.2896+12A>G r.(=) p.(=)
./. - c.2897-47A>G r.(=) p.(=)
./. - c.3019G>C r.(?) p.(Glu1007Gln)
./. - c.*46A>G r.(=) p.(=)
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