Canonical Allele Identifier: CA2063313256

Gene: ATXN2

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111472415A>C , CM000674.2:g.111472415A>C	GRCh38
NC_000012.11:g.111910219A>C , CM000674.1:g.111910219A>C	GRCh37
NC_000012.10:g.110394602A>C	NCBI36
NG_011572.1:g.132262T>G
NG_011572.2:g.132262T>G
NG_011572.3:g.132262T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389153.10:c.2321-1673T>G	ENSP00000373805.6:n.2321-1673T>G
ENST00000483311.6:c.2458-1673T>G	ENSP00000446512.2:n.2458-1673T>G
ENST00000492467.6:c.1873-1673T>G
ENST00000642389.2:c.2525-1673T>G	ENSP00000496055.2:n.2525-1673T>G
ENST00000643474.1:c.127-1673T>G
ENST00000643669.2:c.2558-1673T>G	ENSP00000494663.1:n.2558-1673T>G
ENST00000643694.1:c.181+6655T>G	ENSP00000495833.1:n.181+6655T>G
ENST00000644883.1:c.2519-1673T>G	ENSP00000496279.1:n.2519-1673T>G
ENST00000645162.1:n.874-1673T>G
ENST00000647305.1:c.2552-1673T>G	ENSP00000493897.1:n.2552-1673T>G
ENST00000672335.1:n.2510-1673T>G
ENST00000672613.1:c.2519-1673T>G	ENSP00000500649.1:n.2519-1673T>G
ENST00000673273.1:c.168-1673T>G
ENST00000673283.1:c.2309-1673T>G	ENSP00000500313.1:n.2309-1673T>G
ENST00000673436.1:c.2525-1673T>G MANE Select	ENSP00000500925.1:n.2525-1673T>G
ENST00000673449.1:c.2519-1673T>G	ENSP00000500646.1:n.2519-1673T>G
ENST00000673557.1:c.2561-1673T>G	ENSP00000500766.1:n.2561-1673T>G
ENST00000377617.7:c.2999-1673T>G	ENSP00000366843.3:n.2999-1673T>G
ENST00000389153.8:c.2210-1673T>G	ENSP00000373805.4:n.2210-1673T>G
ENST00000389154.7:c.422-1673T>G	ENSP00000373806.4:n.422-1673T>G
ENST00000483311.5:c.2700-1673T>G
ENST00000495342.1:n.206-1673T>G
ENST00000535949.5:c.2132-1673T>G	ENSP00000439338.1:n.2132-1673T>G
ENST00000542287.6:c.2204-1673T>G	ENSP00000445583.2:n.2204-1673T>G
ENST00000550104.5:c.2999-1673T>G	ENSP00000446576.2:n.2999-1673T>G
ENST00000551755.6:c.324-1673T>G
ENST00000608853.5:c.2519-1673T>G	ENSP00000476504.1:n.2519-1673T>G
ENST00000616825.4:c.2132-1673T>G	ENSP00000481448.1:n.2132-1673T>G
NM_001310121.1:c.2204-1673T>G	NP_001297050.1:n.2204-1673T>G
NM_001310123.1:c.2132-1673T>G	NP_001297052.1:n.2132-1673T>G
NM_002973.3:c.2999-1673T>G	NP_002964.3:n.2999-1673T>G
NR_132311.1:n.3100-1673T>G
NM_001372574.1:c.2525-1673T>G MANE Select	NP_001359503.1:n.2525-1673T>G
NM_002973.4:c.2519-1673T>G	NP_002964.4:n.2519-1673T>G
NR_132311.2:n.2739-1673T>G