Canonical Allele Identifier: CA1194286
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 700206
ClinVar RCV Id: RCV000868294
dbSNP Id: rs377281050
ExAC: 1:160097358 T / A
gnomAD v2: 1-160097358-T-A
gnomAD v3: 1-160127568-T-A
gnomAD v4: 1-160127568-T-A
MyVariant Identifiers: chr1:g.160097358T>A (hg19) chr1:g.160127568T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127568T>A , CM000663.2:g.160127568T>A GRCh38
NC_000001.10:g.160097358T>A , CM000663.1:g.160097358T>A GRCh37
NC_000001.9:g.158363982T>A NCBI36
NG_008014.1:g.16811T>A , LRG_6:g.16811T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.765T>A MANE Select ENSP00000354490.3:p.Ile255=
ENST00000361216.7:c.765T>A ENSP00000354490.3:p.Ile255=
ENST00000392233.7:c.765T>A ENSP00000376066.3:p.Ile255=
ENST00000472488.5:n.868T>A
NM_000702.3:c.765T>A NP_000693.1:p.Ile255=
NM_000702.4:c.765T>A MANE Select NP_000693.1:p.Ile255=
Search 100 bp 5'
Search 100 bp 3'