Canonical Allele Identifier: CA343244267
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1354177
ClinVar RCV Id: RCV001866292
dbSNP Id: rs2101990757
MyVariant Identifiers: chr1:g.160100294G>C (hg19) chr1:g.160130504G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130504G>C , CM000663.2:g.160130504G>C GRCh38
NC_000001.10:g.160100294G>C , CM000663.1:g.160100294G>C GRCh37
NC_000001.9:g.158366918G>C NCBI36
NG_008014.1:g.19747G>C , LRG_6:g.19747G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1734G>C MANE Select ENSP00000354490.3:p.Glu578Asp
ENST00000361216.7:c.1734G>C ENSP00000354490.3:p.Glu578Asp
ENST00000392233.7:c.1734G>C ENSP00000376066.3:p.Glu578Asp
ENST00000447527.1:c.866G>C
ENST00000472488.5:n.1837G>C
NM_000702.3:c.1734G>C NP_000693.1:p.Glu578Asp
NM_000702.4:c.1734G>C MANE Select NP_000693.1:p.Glu578Asp
Search 100 bp 5'
Search 100 bp 3'