Canonical Allele Identifier: CA421350991
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 529762
ClinVar RCV Id: RCV000635239
dbSNP Id: rs1553245180
gnomAD v3: 1-160130576-G-A
gnomAD v4: 1-160130576-G-A
MyVariant Identifiers: chr1:g.160100366G>A (hg19) chr1:g.160130576G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130576G>A , CM000663.2:g.160130576G>A GRCh38
NC_000001.10:g.160100366G>A , CM000663.1:g.160100366G>A GRCh37
NC_000001.9:g.158366990G>A NCBI36
NG_008014.1:g.19819G>A , LRG_6:g.19819G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1806G>A MANE Select ENSP00000354490.3:p.Lys602=
ENST00000361216.7:c.1806G>A ENSP00000354490.3:p.Lys602=
ENST00000392233.7:c.1806G>A ENSP00000376066.3:p.Lys602=
ENST00000447527.1:c.938G>A
ENST00000472488.5:n.1909G>A
NM_000702.3:c.1806G>A NP_000693.1:p.Lys602=
NM_000702.4:c.1806G>A MANE Select NP_000693.1:p.Lys602=
Search 100 bp 5'
Search 100 bp 3'