Canonical Allele Identifier: CA343254886
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 432320
ClinVar RCV Id: RCV000497955
dbSNP Id: rs1553246129
gnomAD v4: 1-160139649-C-G
MyVariant Identifiers: chr1:g.160109439C>G (hg19) chr1:g.160139649C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139649C>G , CM000663.2:g.160139649C>G GRCh38
NC_000001.10:g.160109439C>G , CM000663.1:g.160109439C>G GRCh37
NC_000001.9:g.158376063C>G NCBI36
NG_008014.1:g.28892C>G , LRG_6:g.28892C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2850C>G MANE Select ENSP00000354490.3:p.Ile950Met
ENST00000361216.7:c.2850C>G ENSP00000354490.3:p.Ile950Met
ENST00000392233.7:c.2850C>G ENSP00000376066.3:p.Ile950Met
ENST00000447527.1:c.1931C>G
ENST00000463989.1:n.186C>G
NM_000702.3:c.2850C>G NP_000693.1:p.Ile950Met
NM_000702.4:c.2850C>G MANE Select NP_000693.1:p.Ile950Met
Search 100 bp 5'
Search 100 bp 3'