Canonical Allele Identifier: CA683580917

Gene: ATXN2

Linked Data

• dbSNP Id: rs1396746516
• gnomAD v3: 12-111569900-C-A
• gnomAD v4: 12-111569900-C-A
• MyVariant Identifiers: chr12:g.112007704C>A (hg19) ; chr12:g.111569900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111569900C>A , CM000674.2:g.111569900C>A	GRCh38
NC_000012.11:g.112007704C>A , CM000674.1:g.112007704C>A	GRCh37
NC_000012.10:g.110492087C>A	NCBI36
NG_011572.1:g.34777G>T
NG_011572.2:g.34777G>T
NG_011572.3:g.34777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389153.10:c.252-13981G>T	ENSP00000373805.6:n.252-13981G>T
ENST00000483311.6:c.252-13981G>T	ENSP00000446512.2:n.252-13981G>T
ENST00000642389.2:c.252-13981G>T	ENSP00000496055.2:n.252-13981G>T
ENST00000643669.2:c.252-13981G>T	ENSP00000494663.1:n.252-13981G>T
ENST00000644883.1:c.252-13981G>T	ENSP00000496279.1:n.252-13981G>T
ENST00000647305.1:c.252-13981G>T	ENSP00000493897.1:n.252-13981G>T
ENST00000671792.1:c.91-13981G>T
ENST00000672105.1:n.74-13981G>T
ENST00000672335.1:n.405-13981G>T
ENST00000672613.1:c.252-13981G>T	ENSP00000500649.1:n.252-13981G>T
ENST00000673283.1:c.252-13981G>T	ENSP00000500313.1:n.252-13981G>T
ENST00000673436.1:c.252-13981G>T MANE Select	ENSP00000500925.1:n.252-13981G>T
ENST00000673449.1:c.252-13981G>T	ENSP00000500646.1:n.252-13981G>T
ENST00000673557.1:c.252-13981G>T	ENSP00000500766.1:n.252-13981G>T
ENST00000377617.7:c.732-13981G>T	ENSP00000366843.3:n.732-13981G>T
ENST00000389153.8:c.-64-13981G>T	ENSP00000373805.4:n.-64-13981G>T
ENST00000392645.6:n.652-13981G>T
ENST00000483311.5:c.494-13981G>T
ENST00000535949.5:c.-27-15683G>T	ENSP00000439338.1:n.-27-15683G>T
ENST00000542287.6:c.-64-13981G>T	ENSP00000445583.2:n.-64-13981G>T
ENST00000548492.1:c.58-16923G>T	ENSP00000449566.1:n.58-16923G>T
ENST00000549455.1:n.279+28884G>T
ENST00000550104.5:c.732-13981G>T	ENSP00000446576.2:n.732-13981G>T
ENST00000608853.5:c.252-13981G>T	ENSP00000476504.1:n.252-13981G>T
ENST00000616825.4:c.-64-13981G>T	ENSP00000481448.1:n.-64-13981G>T
NM_001310121.1:c.-64-13981G>T	NP_001297050.1:n.-64-13981G>T
NM_001310123.1:c.-27-15683G>T	NP_001297052.1:n.-27-15683G>T
NM_002973.3:c.732-13981G>T	NP_002964.3:n.732-13981G>T
NR_132311.1:n.894-13981G>T
NM_001372574.1:c.252-13981G>T MANE Select	NP_001359503.1:n.252-13981G>T
NM_002973.4:c.252-13981G>T	NP_002964.4:n.252-13981G>T
NR_132311.2:n.533-13981G>T