Canonical Allele Identifier: CA1194284
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124107
ClinVar RCV Id: RCV003035754
dbSNP Id: rs779682642
ExAC: 1:160097355 C / T
gnomAD v2: 1-160097355-C-T
gnomAD v4: 1-160127565-C-T
MyVariant Identifiers: chr1:g.160097355C>T (hg19) chr1:g.160127565C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127565C>T , CM000663.2:g.160127565C>T GRCh38
NC_000001.10:g.160097355C>T , CM000663.1:g.160097355C>T GRCh37
NC_000001.9:g.158363979C>T NCBI36
NG_008014.1:g.16808C>T , LRG_6:g.16808C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.762C>T MANE Select ENSP00000354490.3:p.Gly254=
ENST00000361216.7:c.762C>T ENSP00000354490.3:p.Gly254=
ENST00000392233.7:c.762C>T ENSP00000376066.3:p.Gly254=
ENST00000472488.5:n.865C>T
NM_000702.3:c.762C>T NP_000693.1:p.Gly254=
NM_000702.4:c.762C>T MANE Select NP_000693.1:p.Gly254=
Search 100 bp 5'
Search 100 bp 3'