Canonical Allele Identifier: CA2063386789

Gene: ATXN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111599196G= , CM000674.2:g.111599196G=	GRCh38
NC_000012.11:g.112037000G= , CM000674.1:g.112037000G=	GRCh37
NC_000012.10:g.110521383G=	NCBI36
NG_011572.1:g.5481C=
NG_011572.2:g.5481C=
NG_011572.3:g.5481C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483311.6:c.-162C=	ENSP00000446512.2:n.-162C=
ENST00000643669.2:c.-162C=	ENSP00000494663.1:n.-162C=
ENST00000672613.1:c.-162C=	ENSP00000500649.1:n.-162C=
ENST00000673436.1:c.-162C= MANE Select	ENSP00000500925.1:n.-162C=
ENST00000377617.7:c.319C=	ENSP00000366843.3:p.Leu107=
ENST00000483311.5:c.81C=
ENST00000535949.5:c.-28+379C=	ENSP00000439338.1:n.-28+379C=
ENST00000542287.6:c.-65+379C=	ENSP00000445583.2:n.-65+379C=
ENST00000550104.5:c.319C=	ENSP00000446576.2:p.Leu107=
ENST00000608853.5:c.-162C=	ENSP00000476504.1:n.-162C=
ENST00000616825.4:c.-477C=	ENSP00000481448.1:n.-477C=
NM_001310121.1:c.-65+379C=	NP_001297050.1:n.-65+379C=
NM_001310123.1:c.-28+379C=	NP_001297052.1:n.-28+379C=
NM_002973.3:c.319C=	NP_002964.3:p.Leu107=
NR_132311.1:n.481C=
NM_001372574.1:c.-162C= MANE Select	NP_001359503.1:n.-162C=
NM_002973.4:c.-162C=	NP_002964.4:n.-162C=
NR_132311.2:n.120C=