Canonical Allele Identifier: CA313343
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 204908
ClinVar RCV Id: RCV000186810 RCV000763748 RCV003746501 RCV003165420
dbSNP Id: rs762330744
ExAC: 1:160100250 C / T
gnomAD v2: 1-160100250-C-T
gnomAD v3: 1-160130460-C-T
gnomAD v4: 1-160130460-C-T
COSMIC: COSM210940
MyVariant Identifiers: chr1:g.160100250C>T (hg19) chr1:g.160130460C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130460C>T , CM000663.2:g.160130460C>T GRCh38
NC_000001.10:g.160100250C>T , CM000663.1:g.160100250C>T GRCh37
NC_000001.9:g.158366874C>T NCBI36
NG_008014.1:g.19703C>T , LRG_6:g.19703C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1690C>T MANE Select ENSP00000354490.3:p.Arg564Trp
ENST00000361216.7:c.1690C>T ENSP00000354490.3:p.Arg564Trp
ENST00000392233.7:c.1690C>T ENSP00000376066.3:p.Arg564Trp
ENST00000447527.1:c.822C>T
ENST00000472488.5:n.1793C>T
NM_000702.3:c.1690C>T NP_000693.1:p.Arg564Trp
NM_000702.4:c.1690C>T MANE Select NP_000693.1:p.Arg564Trp
Search 100 bp 5'
Search 100 bp 3'