Canonical Allele Identifier: CA2063363694
Gene: ATXN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111569970A= , CM000674.2:g.111569970A= GRCh38
NC_000012.11:g.112007774A= , CM000674.1:g.112007774A= GRCh37
NC_000012.10:g.110492157A= NCBI36
NG_011572.1:g.34707T=
NG_011572.2:g.34707T=
NG_011572.3:g.34707T=

Transcript Alleles

HGVS Amino-acid change
ENST00000389153.10:c.252-14051T= ENSP00000373805.6:n.252-14051T=
ENST00000483311.6:c.252-14051T= ENSP00000446512.2:n.252-14051T=
ENST00000642389.2:c.252-14051T= ENSP00000496055.2:n.252-14051T=
ENST00000643669.2:c.252-14051T= ENSP00000494663.1:n.252-14051T=
ENST00000644883.1:c.252-14051T= ENSP00000496279.1:n.252-14051T=
ENST00000647305.1:c.252-14051T= ENSP00000493897.1:n.252-14051T=
ENST00000671792.1:c.91-14051T=
ENST00000672105.1:n.74-14051T=
ENST00000672335.1:n.405-14051T=
ENST00000672613.1:c.252-14051T= ENSP00000500649.1:n.252-14051T=
ENST00000673283.1:c.252-14051T= ENSP00000500313.1:n.252-14051T=
ENST00000673436.1:c.252-14051T= MANE Select ENSP00000500925.1:n.252-14051T=
ENST00000673449.1:c.252-14051T= ENSP00000500646.1:n.252-14051T=
ENST00000673557.1:c.252-14051T= ENSP00000500766.1:n.252-14051T=
ENST00000377617.7:c.732-14051T= ENSP00000366843.3:n.732-14051T=
ENST00000389153.8:c.-64-14051T= ENSP00000373805.4:n.-64-14051T=
ENST00000392645.6:n.652-14051T=
ENST00000483311.5:c.494-14051T=
ENST00000535949.5:c.-27-15753T= ENSP00000439338.1:n.-27-15753T=
ENST00000542287.6:c.-64-14051T= ENSP00000445583.2:n.-64-14051T=
ENST00000548492.1:c.58-16993T= ENSP00000449566.1:n.58-16993T=
ENST00000549455.1:n.279+28814T=
ENST00000550104.5:c.732-14051T= ENSP00000446576.2:n.732-14051T=
ENST00000608853.5:c.252-14051T= ENSP00000476504.1:n.252-14051T=
ENST00000616825.4:c.-64-14051T= ENSP00000481448.1:n.-64-14051T=
NM_001310121.1:c.-64-14051T= NP_001297050.1:n.-64-14051T=
NM_001310123.1:c.-27-15753T= NP_001297052.1:n.-27-15753T=
NM_002973.3:c.732-14051T= NP_002964.3:n.732-14051T=
NR_132311.1:n.894-14051T=
NM_001372574.1:c.252-14051T= MANE Select NP_001359503.1:n.252-14051T=
NM_002973.4:c.252-14051T= NP_002964.4:n.252-14051T=
NR_132311.2:n.533-14051T=