Transcript #00000062

Transcript name transcript variant 2
Gene name EXT2 (exostosin glycosyltransferase 2)
Chromosome 11
Transcript - NCBI ID NM_207122.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_997005.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

111 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-31+372G>A r.(=) p.(=)
./. - c.-31+373C>G r.(=) p.(=)
./. - c.-31+484del r.(=) p.(=)
./. - c.-31+484del r.(=) p.(=)
./. - c.-31+514_-31+559del r.(=) p.(=)
./. - c.-13T>C r.(=) p.(=)
./. - c.11C>T r.(?) p.(Ser4Leu)
./. - c.11C>T r.(?) p.(Ser4Leu)
./. - c.151G>C r.(?) p.(Glu51Gln)
./. - c.151G>C r.(?) p.(Glu51Gln)
./. - c.260T>G r.(?) p.(Met87Arg)
./. - c.260T>G r.(?) p.(Met87Arg)
./. - c.260T>G r.(?) p.(Met87Arg)
./. - c.284G>A r.(?) p.(Arg95His)
./. - c.284G>A r.(?) p.(Arg95His)
./. - c.326A>G r.(?) p.(Tyr109Cys)
./. - c.343G>A r.(?) p.(Val115Met)
./. - c.357C>T r.(=) p.(=)
./. - c.374C>G r.(?) p.(Thr125Ser)
./. - c.473A>G r.(?) p.(Asp158Gly)
./. - c.476T>G r.(?) p.(Val159Gly)
./. - c.476T>G r.(?) p.(Val159Gly)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.519G>C r.(=) p.(=)
./. - c.520A>C r.(?) p.(Met174Leu)
./. - c.520A>C r.(?) p.(Met174Leu)
./. - c.520A>C r.(?) p.(Met174Leu)
./. - c.537-22T>G r.(=) p.(=)
./. - c.710C>T r.(?) p.(Ser237Leu)
./. - c.710C>T r.(?) p.(Ser237Leu)
./. - c.719T>C r.(?) p.(Val240Ala)
./. - c.744-45C>T r.(=) p.(=)
./. - c.744-45C>T r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.744-24A>G r.(=) p.(=)
./. - c.804C>T r.(=) p.(=)
./. - c.889C>T r.(?) p.(Arg297Cys)
./. - c.889C>T r.(?) p.(Arg297Cys)
./. - c.889C>T r.(?) p.(Arg297Cys)
./. - c.889C>T r.(?) p.(Arg297Cys)
./. - c.896G>A r.(?) p.(Arg299His)
./. - c.918C>T r.(=) p.(=)
./. - c.918C>T r.(=) p.(=)
./. - c.918C>T r.(=) p.(=)
./. - c.940-27A>G r.(=) p.(=)
./. - c.940-18C>G r.(=) p.(=)
./. - c.965G>A r.(?) p.(Arg322His)
./. - c.965G>A r.(?) p.(Arg322His)
./. - c.1003T>C r.(=) p.(=)
./. - c.1079+17A>G r.(=) p.(=)
./. - c.1079+23C>T r.(=) p.(=)
./. - c.1079+23C>T r.(=) p.(=)
./. - c.1080-16T>G r.(=) p.(=)
./. - c.1174-23A>G r.(=) p.(=)
./. - c.1174-23A>G r.(=) p.(=)
./. - c.1178G>A r.(?) p.(Arg393Gln)
./. - c.1305+12C>G r.(=) p.(=)
./. - c.1306-23C>T r.(=) p.(=)
./. - c.1340C>T r.(?) p.(Pro447Leu)
./. - c.1370C>A r.(?) p.(Thr457Asn)
./. - c.1495+31A>G r.(=) p.(=)
./. - c.1496-1G>C r.spl? p.?
./. - c.1496-1G>C r.spl? p.?
./. - c.1564C>T r.(?) p.(Arg522Cys)
./. - c.1587C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1641C>T r.(=) p.(=)
./. - c.1645C>T r.(=) p.(=)
./. - c.1645C>T r.(=) p.(=)
./. - c.1645C>T r.(=) p.(=)
./. - c.1662+20T>C r.(=) p.(=)
./. - c.1663-32G>A r.(=) p.(=)
./. - c.1663-32G>A r.(=) p.(=)
./. - c.1663-32G>A r.(=) p.(=)
./. - c.1760C>T r.(?) p.(Thr587Met)
./. - c.1760C>T r.(?) p.(Thr587Met)
./. - c.1760C>T r.(?) p.(Thr587Met)
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