Transcript #00003161 (NM_002973.3, ATXN2 gene)

Transcript name ataxin 2
Gene name ATXN2 (ataxin 2)
Chromosome 12
Transcript - NCBI ID NM_002973.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002964.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

77 entries on 1 page. Showing entries 1 - 77.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
-?/. - c.30T>C - r.(?) p.(Ser10=)
-?/. - c.46G>C - r.(?) p.(Glu16Gln)
?/. - c.199C>T - r.(?) p.(Gln67Ter)
-?/. - c.244A>G - r.(?) p.(Asn82Asp)
-/. - c.319C>G - r.(?) p.(Leu107Val)
-/. - c.319C>G - r.(?) p.(Leu107Val)
-?/. - c.340C>T - r.(?) p.(Pro114Ser)
-?/. - c.341C>T - r.(?) p.(Pro114Leu)
-/. - c.390C>T - r.(?) p.(Arg130=)
-/. - c.390C>T - r.(?) p.(Arg130=)
?/. - c.403C>A - r.(?) p.(Arg135Ser)
-?/. - c.488T>C - r.(?) p.(Leu163Pro)
-?/. - c.519G>A - r.(?) p.(Gln173=)
+/. 1 c.521_522ins537_551;537_538ins[523_551;ACAG] Gln[39] 8-1-4-1-4-1-9-1-10 r.(?) p.(Gln173_Gln188dup)
+/. 1 c.521_522ins537_551;540_541ins[526_551;A] Gln[37] 8-1-9-1-4-1-4-1-8 r.(?) p.(Gln175_Gln188dup)
-/. - c.522G>A - r.(?) p.(Gln174=)
-?/. - c.522G>A - r.(?) p.(Gln174=)
+/. 1 c.522G>A;540_541ins[526_565;AA] Gln[37] 8-1-9-1-4-1-4-1-8 r.(?) p.(Gln175_Gln188dup)
-?/. 1 c.522G>A;551_552ins523_540 Gln[29] 8-1-4-1-4-1-10 r.(?) p.(Gln183_Gln188dup)
-/. 1 c.522G>A;551_552ins526_537 Gln[27] 8-1-4-1-4-1-8 r.(?) p.(Gln185_Gln188dup)
-/. 1 c.522G>A;551_552ins526_537 Gln[27] 8-1-4-1-4-1-8 r.(?) p.(Gln185_Gln188dup)
-/. 1 c.522G>A;551_552ins526_537 Gln[27] 8-1-4-1-4-1-8 r.(?) p.(Gln185_Gln188dup)
-/. 1 c.522G>A;551_552ins526_537 Gln[27] 8-1-4-1-4-1-8 r.(?) p.(Gln185_Gln188dup)
-/. 1 c.522G>A;551_552ins526_537 Gln[27] 8-1-4-1-4-1-8 r.(?) p.(Gln185_Gln188dup)
-/. 1 c.522G>A;551_552ins526_537 Gln[27] 8-1-4-1-4-1-8 r.(?) p.(Gln185_Gln188dup)
-?/. 1 c.522G>A;563_564ins514_537 Gln[30] 21-1-8 r.(?) p.(Gln182_Gln188dup)
-?/. 1 c.522G>A;565_566ins511_537 Gln[32] 13-1-8-1-9 r.(?) p.(Gln180_Gln188dup)
+/. 1 c.536_537insGC;537_538ins498_534 Gln[36] 36 r.(?) p.(Gln176_Gln188dup)
-/. - c.537A>G - r.(?) p.(Gln179=)
-?/. - c.537A>G - r.(?) p.(Gln179=)
-/. 1 c.537_539del Gln[22] 22 r.(?) p.(Gln188del)
-/. - c.537_539del - r.(?) p.(Gln188del)
-?/. - c.540G>A - r.(?) p.(Gln180=)
-?/. - c.542_543insACA - r.(?) p.(Gln188dup)
-/. - c.563_565del - r.(?) p.(Gln188del)
-?/. - c.563_565del - r.(?) p.(Gln188del)
-?/. - c.624C>A - r.(?) p.(Pro208=)
-/. - c.769-11del - r.(=) p.(=)
-?/. - c.769-11del - r.(=) p.(=)
-/. - c.769-11dup - r.(=) p.(=)
-/. - c.769-11dup - r.(=) p.(=)
-/. - c.769-11dup - r.(=) p.(=)
-?/. - c.1123G>A - r.(?) p.(Asp375Asn)
?/. - c.1176+3A>T - r.spl? p.?
?/. - c.1751C>T - r.(?) p.(Pro584Leu)
?/. - c.2105C>G - r.(?) p.(Pro702Arg)
-?/. - c.2119C>T - r.(?) p.(Leu707Phe)
-?/. - c.2149A>G - r.(?) p.(Thr717Ala)
?/. - c.2294A>G - r.(?) p.(Asn765Ser)
-?/. - c.2586C>A - r.(?) p.(Pro862=)
?/. - c.2686A>G - r.(?) p.(Lys896Glu)
-?/. - c.2691C>T - r.(?) p.(Asp897=)
?/. - c.2860C>T - r.(?) p.(Pro954Ser)
-?/. - c.2937+62C>T - r.(=) p.(=)
-?/. - c.3000A>G - r.(?) p.(Val1000=)
?/. - c.3247G>A - r.(?) p.(Ala1083Thr)
-?/. - c.3322C>T - r.(?) p.(Pro1108Ser)
?/. - c.3412G>A - r.(?) p.(Ala1138Thr)
?/. - c.3472C>T - r.(?) p.(Gln1158Ter)
-/. - c.3517-12G>A - r.(=) p.(=)
-?/. - c.3517-12G>A - r.(=) p.(=)
?/. - c.3593T>C - r.(?) p.(Leu1198Pro)
-?/. - c.3708G>A - r.(?) p.(Ala1236=)
?/. - c.*4529T>G - r.(=) p.(=)
?/. - c.*4542G>A - r.(=) p.(=)
?/. - c.*4587G>A - r.(=) p.(=)
-?/. - c.*4760C>G - r.(=) p.(=)
-?/. - c.*4777_*4800del - r.(=) p.(=)
?/. - c.*4812G>A - r.(=) p.(=)
-?/. - c.*5025G>A - r.(=) p.(=)
?/. - c.*5042C>T - r.(=) p.(=)
-?/. - c.*5255_*5264del - r.(=) p.(=)
-/. - c.*5260_*5264del - r.(=) p.(=)
-?/. - c.*5260_*5264del - r.(=) p.(=)
-?/. - c.*5260_*5264dup - r.(=) p.(=)
-?/. - c.*5260_*5264dup - r.(=) p.(=)
-?/. - c.*5429G>A - r.(=) p.(=)
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