Canonical Allele Identifier: CA386725231

Gene: ATXN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111488678C>T , CM000674.2:g.111488678C>T	GRCh38
NC_000012.11:g.111926482C>T , CM000674.1:g.111926482C>T	GRCh37
NC_000012.10:g.110410865C>T	NCBI36
NG_011572.1:g.115999G>A
NG_011572.2:g.115999G>A
NG_011572.3:g.115999G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001372574.1:c.2038G>A MANE Select	NP_001359503.1:p.Ala680Thr
ENST00000673436.1:c.2038G>A MANE Select	ENSP00000500925.1:p.Ala680Thr
NM_001310121.1:c.1723G>A	NP_001297050.1:p.Ala575Thr
NM_001310123.1:c.1651G>A	NP_001297052.1:p.Ala551Thr
NM_002973.3:c.2518G>A	NP_002964.3:p.Ala840Thr
NM_002973.4:c.2038G>A	NP_002964.4:p.Ala680Thr
NR_132311.1:n.2680G>A
NR_132311.2:n.2319G>A
ENST00000377617.7:c.2518G>A	ENSP00000366843.3:p.Ala840Thr
ENST00000389153.10:c.1840G>A	ENSP00000373805.6:p.Ala614Thr
ENST00000389153.8:c.1723G>A	ENSP00000373805.4:p.Ala575Thr
ENST00000483311.5:c.2280G>A
ENST00000483311.6:c.2038G>A	ENSP00000446512.2:p.Ala680Thr
ENST00000492467.5:c.651G>A
ENST00000492467.6:c.1392G>A
ENST00000535949.5:c.1651G>A	ENSP00000439338.1:p.Ala551Thr
ENST00000542287.6:c.1723G>A	ENSP00000445583.2:p.Ala575Thr
ENST00000546483.1:n.2005G>A
ENST00000550104.5:c.2518G>A	ENSP00000446576.2:p.Ala840Thr
ENST00000608853.5:c.2038G>A	ENSP00000476504.1:p.Ala680Thr
ENST00000616825.4:c.1651G>A	ENSP00000481448.1:p.Ala551Thr
ENST00000642389.2:c.2038G>A	ENSP00000496055.2:p.Ala680Thr
ENST00000643669.2:c.2038G>A	ENSP00000494663.1:p.Ala680Thr
ENST00000644883.1:c.2038G>A	ENSP00000496279.1:p.Ala680Thr
ENST00000645162.1:n.393G>A
ENST00000647305.1:c.2038G>A	ENSP00000493897.1:p.Ala680Thr
ENST00000672335.1:n.2029G>A
ENST00000672613.1:c.2038G>A	ENSP00000500649.1:p.Ala680Thr
ENST00000673283.1:c.1828G>A	ENSP00000500313.1:p.Ala610Thr
ENST00000673449.1:c.2038G>A	ENSP00000500646.1:p.Ala680Thr
ENST00000673557.1:c.2074G>A	ENSP00000500766.1:p.Ala692Thr