Canonical Allele Identifier: CA13756789
Gene: ATXN2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs653178

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111569952C>T , CM000674.2:g.111569952C>T GRCh38
NC_000012.11:g.112007756C>T , CM000674.1:g.112007756C>T GRCh37
NC_000012.10:g.110492139C>T NCBI36
NG_011572.1:g.34725G>A
NG_011572.2:g.34725G>A

Transcript Alleles

HGVS Amino-acid change
NM_001310121.1:c.-64-14033G>A VV NP_001297050.1:p.=
NM_001310123.1:c.-27-15735G>A VV NP_001297052.1:p.=
NM_002973.3:c.732-14033G>A VV NP_002964.3:p.=
NR_132311.1:n.894-14033G>A
ENST00000377617.7:c.732-14033G>A ENSP00000366843.3:p.=
ENST00000389153.8:c.-64-14033G>A ENSP00000373805.4:p.=
ENST00000392645.6:n.652-14033G>A
ENST00000483311.5:n.494-14033G>A
ENST00000535949.5:c.-27-15735G>A ENSP00000439338.1:p.=
ENST00000542287.6:c.-64-14033G>A ENSP00000445583.2:p.=
ENST00000548492.1:c.58-16975G>A ENSP00000449566.1:p.=
ENST00000549455.1:n.279+28832G>A
ENST00000550104.5:c.732-14033G>A ENSP00000446576.2:p.=
ENST00000608853.5:c.252-14033G>A ENSP00000476504.1:p.=
ENST00000616825.4:c.-64-14033G>A ENSP00000481448.1:p.=