Canonical Allele Identifier: CA343248542
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 588404
ClinVar RCV Id: RCV000717325
dbSNP Id: rs1184210055
gnomAD v4: 1-160135188-A-G
MyVariant Identifiers: chr1:g.160104978A>G (hg19) chr1:g.160135188A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160135188A>G , CM000663.2:g.160135188A>G GRCh38
NC_000001.10:g.160104978A>G , CM000663.1:g.160104978A>G GRCh37
NC_000001.9:g.158371602A>G NCBI36
NG_008014.1:g.24431A>G , LRG_6:g.24431A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2008A>G MANE Select ENSP00000354490.3:p.Met670Val
ENST00000361216.7:c.2008A>G ENSP00000354490.3:p.Met670Val
ENST00000392233.7:c.2008A>G ENSP00000376066.3:p.Met670Val
ENST00000447527.1:c.1140A>G
ENST00000472488.5:n.2111A>G
NM_000702.3:c.2008A>G NP_000693.1:p.Met670Val
NM_000702.4:c.2008A>G MANE Select NP_000693.1:p.Met670Val
Search 100 bp 5'
Search 100 bp 3'