Canonical Allele Identifier: CA526678380
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1638353
ClinVar RCV Id: RCV002134035
dbSNP Id: rs1381652652
gnomAD v2: 1-160100088-G-A
gnomAD v4: 1-160130298-G-A
MyVariant Identifiers: chr1:g.160100088G>A (hg19) chr1:g.160130298G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130298G>A , CM000663.2:g.160130298G>A GRCh38
NC_000001.10:g.160100088G>A , CM000663.1:g.160100088G>A GRCh37
NC_000001.9:g.158366712G>A NCBI36
NG_008014.1:g.19541G>A , LRG_6:g.19541G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1651+7G>A MANE Select ENSP00000354490.3:n.1651+7G>A
ENST00000361216.7:c.1651+7G>A ENSP00000354490.3:n.1651+7G>A
ENST00000392233.7:c.1651+7G>A ENSP00000376066.3:n.1651+7G>A
ENST00000447527.1:c.783+7G>A
ENST00000472488.5:n.1754+7G>A
NM_000702.3:c.1651+7G>A NP_000693.1:n.1651+7G>A
NM_000702.4:c.1651+7G>A MANE Select NP_000693.1:n.1651+7G>A
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