Canonical Allele Identifier: CA243614010

Gene: ATXN2

Linked Data

• dbSNP Id: rs114467790
• gnomAD v2: 12-112007809-G-C
• gnomAD v3: 12-111570005-G-C
• gnomAD v4: 12-111570005-G-C
• MyVariant Identifiers: chr12:g.112007809G>C (hg19) ; chr12:g.111570005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111570005G>C , CM000674.2:g.111570005G>C	GRCh38
NC_000012.11:g.112007809G>C , CM000674.1:g.112007809G>C	GRCh37
NC_000012.10:g.110492192G>C	NCBI36
NG_011572.1:g.34672C>G
NG_011572.2:g.34672C>G
NG_011572.3:g.34672C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389153.10:c.252-14086C>G	ENSP00000373805.6:n.252-14086C>G
ENST00000483311.6:c.252-14086C>G	ENSP00000446512.2:n.252-14086C>G
ENST00000642389.2:c.252-14086C>G	ENSP00000496055.2:n.252-14086C>G
ENST00000643669.2:c.252-14086C>G	ENSP00000494663.1:n.252-14086C>G
ENST00000644883.1:c.252-14086C>G	ENSP00000496279.1:n.252-14086C>G
ENST00000647305.1:c.252-14086C>G	ENSP00000493897.1:n.252-14086C>G
ENST00000671792.1:c.91-14086C>G
ENST00000672105.1:n.74-14086C>G
ENST00000672335.1:n.405-14086C>G
ENST00000672613.1:c.252-14086C>G	ENSP00000500649.1:n.252-14086C>G
ENST00000673283.1:c.252-14086C>G	ENSP00000500313.1:n.252-14086C>G
ENST00000673436.1:c.252-14086C>G MANE Select	ENSP00000500925.1:n.252-14086C>G
ENST00000673449.1:c.252-14086C>G	ENSP00000500646.1:n.252-14086C>G
ENST00000673557.1:c.252-14086C>G	ENSP00000500766.1:n.252-14086C>G
ENST00000377617.7:c.732-14086C>G	ENSP00000366843.3:n.732-14086C>G
ENST00000389153.8:c.-64-14086C>G	ENSP00000373805.4:n.-64-14086C>G
ENST00000392645.6:n.652-14086C>G
ENST00000483311.5:c.494-14086C>G
ENST00000535949.5:c.-27-15788C>G	ENSP00000439338.1:n.-27-15788C>G
ENST00000542287.6:c.-64-14086C>G	ENSP00000445583.2:n.-64-14086C>G
ENST00000548492.1:c.58-17028C>G	ENSP00000449566.1:n.58-17028C>G
ENST00000549455.1:n.279+28779C>G
ENST00000550104.5:c.732-14086C>G	ENSP00000446576.2:n.732-14086C>G
ENST00000608853.5:c.252-14086C>G	ENSP00000476504.1:n.252-14086C>G
ENST00000616825.4:c.-64-14086C>G	ENSP00000481448.1:n.-64-14086C>G
NM_001310121.1:c.-64-14086C>G	NP_001297050.1:n.-64-14086C>G
NM_001310123.1:c.-27-15788C>G	NP_001297052.1:n.-27-15788C>G
NM_002973.3:c.732-14086C>G	NP_002964.3:n.732-14086C>G
NR_132311.1:n.894-14086C>G
NM_001372574.1:c.252-14086C>G MANE Select	NP_001359503.1:n.252-14086C>G
NM_002973.4:c.252-14086C>G	NP_002964.4:n.252-14086C>G
NR_132311.2:n.533-14086C>G