Canonical Allele Identifier: CA1194573
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 966496
ClinVar RCV Id: RCV001241186
dbSNP Id: rs148228696
ExAC: 1:160100291 G / A
gnomAD v2: 1-160100291-G-A
gnomAD v3: 1-160130501-G-A
gnomAD v4: 1-160130501-G-A
COSMIC: COSM898179
MyVariant Identifiers: chr1:g.160100291G>A (hg19) chr1:g.160130501G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130501G>A , CM000663.2:g.160130501G>A GRCh38
NC_000001.10:g.160100291G>A , CM000663.1:g.160100291G>A GRCh37
NC_000001.9:g.158366915G>A NCBI36
NG_008014.1:g.19744G>A , LRG_6:g.19744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1731G>A MANE Select ENSP00000354490.3:p.Thr577=
ENST00000361216.7:c.1731G>A ENSP00000354490.3:p.Thr577=
ENST00000392233.7:c.1731G>A ENSP00000376066.3:p.Thr577=
ENST00000447527.1:c.863G>A
ENST00000472488.5:n.1834G>A
NM_000702.3:c.1731G>A NP_000693.1:p.Thr577=
NM_000702.4:c.1731G>A MANE Select NP_000693.1:p.Thr577=
Search 100 bp 5'
Search 100 bp 3'