Canonical Allele Identifier: CA6790901

Gene: ATXN2

Linked Data

• ClinVar Variation Id: 522367
• ClinVar RCV Id: RCV000625507 ; RCV001700280
• dbSNP Id: rs144235483
• ExAC: 12:111992031 TA / T
• gnomAD v2: 12-111992031-TA-T
• gnomAD v3: 12-111554227-TA-T
• gnomAD v4: 12-111554227-TA-T
• COSMIC: COSN20071340
• MyVariant Identifiers: chr12:g.111992033del (hg19) ; chr12:g.111992032del (hg19) ; chr12:g.111554229del (hg38) ; chr12:g.111554228del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111554241del , CM000674.2:g.111554241del	GRCh38
NC_000012.11:g.111992045del , CM000674.1:g.111992045del	GRCh37
NC_000012.10:g.110476428del	NCBI36
NG_011572.1:g.50449del
NG_011572.2:g.50449del
NG_011572.3:g.50449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389153.10:c.289-11del	ENSP00000373805.6:n.289-11del
ENST00000483311.6:c.289-11del	ENSP00000446512.2:n.289-11del
ENST00000642389.2:c.289-11del	ENSP00000496055.2:n.289-11del
ENST00000643669.2:c.289-11del	ENSP00000494663.1:n.289-11del
ENST00000644883.1:c.289-11del	ENSP00000496279.1:n.289-11del
ENST00000647305.1:c.289-11del	ENSP00000493897.1:n.289-11del
ENST00000671792.1:c.128-11del
ENST00000672105.1:n.111-11del
ENST00000672335.1:n.442-11del
ENST00000672613.1:c.289-11del	ENSP00000500649.1:n.289-11del
ENST00000673283.1:c.289-11del	ENSP00000500313.1:n.289-11del
ENST00000673436.1:c.289-11del MANE Select	ENSP00000500925.1:n.289-11del
ENST00000673449.1:c.289-11del	ENSP00000500646.1:n.289-11del
ENST00000673557.1:c.289-11del	ENSP00000500766.1:n.289-11del
ENST00000377617.7:c.769-11del	ENSP00000366843.3:n.769-11del
ENST00000389153.8:c.-27-11del	ENSP00000373805.4:n.-27-11del
ENST00000392645.6:n.689-11del
ENST00000483311.5:c.531-11del
ENST00000535949.5:c.-27-11del	ENSP00000439338.1:n.-27-11del
ENST00000542287.6:c.-27-11del	ENSP00000445583.2:n.-27-11del
ENST00000548492.1:c.58-1251del	ENSP00000449566.1:n.58-1251del
ENST00000549455.1:n.280-28912del
ENST00000550104.5:c.769-11del	ENSP00000446576.2:n.769-11del
ENST00000608853.5:c.289-11del	ENSP00000476504.1:n.289-11del
ENST00000616825.4:c.-27-11del	ENSP00000481448.1:n.-27-11del
NM_001310121.1:c.-27-11del	NP_001297050.1:n.-27-11del
NM_001310123.1:c.-27-11del	NP_001297052.1:n.-27-11del
NM_002973.3:c.769-11del	NP_002964.3:n.769-11del
NR_132311.1:n.931-11del
NM_001372574.1:c.289-11del MANE Select	NP_001359503.1:n.289-11del
NM_002973.4:c.289-11del	NP_002964.4:n.289-11del
NR_132311.2:n.570-11del