Canonical Allele Identifier: CA6790233

Gene: ATXN2

Linked Data

• ClinVar Variation Id: 522365
• ClinVar RCV Id: RCV000625505 ; RCV001701137
• dbSNP Id: rs2073950
• ExAC: 12:111894072 C / T
• gnomAD v2: 12-111894072-C-T
• gnomAD v3: 12-111456268-C-T
• gnomAD v4: 12-111456268-C-T
• MyVariant Identifiers: chr12:g.111894072C>T (hg19) ; chr12:g.111456268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111456268C>T , CM000674.2:g.111456268C>T	GRCh38
NC_000012.11:g.111894072C>T , CM000674.1:g.111894072C>T	GRCh37
NC_000012.10:g.110378455C>T	NCBI36
NG_011572.1:g.148409G>A
NG_011572.2:g.148409G>A
NG_011572.3:g.148409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389153.10:c.2839-12G>A	ENSP00000373805.6:n.2839-12G>A
ENST00000483311.6:c.*468-12G>A	ENSP00000446512.2:n.*468-12G>A
ENST00000492467.6:c.2391-12G>A
ENST00000642389.2:c.3043-12G>A	ENSP00000496055.2:n.3043-12G>A
ENST00000643474.1:c.591-12G>A
ENST00000643669.2:c.3076-12G>A	ENSP00000494663.1:n.3076-12G>A
ENST00000643694.1:c.328-12G>A	ENSP00000495833.1:n.328-12G>A
ENST00000647445.1:c.396-12G>A
ENST00000672335.1:n.2974-12G>A
ENST00000672613.1:c.3037-12G>A	ENSP00000500649.1:n.3037-12G>A
ENST00000673273.1:c.853-12G>A
ENST00000673283.1:c.2773-12G>A	ENSP00000500313.1:n.2773-12G>A
ENST00000673436.1:c.3043-12G>A MANE Select	ENSP00000500925.1:n.3043-12G>A
ENST00000673449.1:c.3037-12G>A	ENSP00000500646.1:n.3037-12G>A
ENST00000673557.1:c.3079-12G>A	ENSP00000500766.1:n.3079-12G>A
ENST00000377617.7:c.3517-12G>A	ENSP00000366843.3:n.3517-12G>A
ENST00000389153.8:c.2728-12G>A	ENSP00000373805.4:n.2728-12G>A
ENST00000389154.7:c.940-12G>A	ENSP00000373806.4:n.940-12G>A
ENST00000468920.2:n.227-12G>A
ENST00000482777.5:n.564-12G>A
ENST00000483311.5:c.3218-12G>A
ENST00000535949.5:c.2596-12G>A	ENSP00000439338.1:n.2596-12G>A
ENST00000542287.6:c.2722-12G>A	ENSP00000445583.2:n.2722-12G>A
ENST00000550104.5:c.3517-12G>A	ENSP00000446576.2:n.3517-12G>A
ENST00000550844.2:c.334-12G>A	ENSP00000447741.3:n.334-12G>A
ENST00000550889.5:n.1668-12G>A
ENST00000551551.1:n.1189-12G>A
ENST00000608853.5:c.3037-12G>A	ENSP00000476504.1:n.3037-12G>A
ENST00000616825.4:c.2596-12G>A	ENSP00000481448.1:n.2596-12G>A
NM_001310121.1:c.2722-12G>A	NP_001297050.1:n.2722-12G>A
NM_001310123.1:c.2596-12G>A	NP_001297052.1:n.2596-12G>A
NM_002973.3:c.3517-12G>A	NP_002964.3:n.3517-12G>A
NR_132311.1:n.3618-12G>A
NM_001372574.1:c.3043-12G>A MANE Select	NP_001359503.1:n.3043-12G>A
NM_002973.4:c.3037-12G>A	NP_002964.4:n.3037-12G>A
NR_132311.2:n.3257-12G>A