Canonical Allele Identifier: CA1194559
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 293133
ClinVar RCV Id: RCV000351414 RCV000400233
dbSNP Id: rs769798147
ExAC: 1:160100234 A / G
gnomAD v2: 1-160100234-A-G
gnomAD v3: 1-160130444-A-G
gnomAD v4: 1-160130444-A-G
MyVariant Identifiers: chr1:g.160100234A>G (hg19) chr1:g.160130444A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130444A>G , CM000663.2:g.160130444A>G GRCh38
NC_000001.10:g.160100234A>G , CM000663.1:g.160100234A>G GRCh37
NC_000001.9:g.158366858A>G NCBI36
NG_008014.1:g.19687A>G , LRG_6:g.19687A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1674A>G MANE Select ENSP00000354490.3:p.Pro558=
ENST00000361216.7:c.1674A>G ENSP00000354490.3:p.Pro558=
ENST00000392233.7:c.1674A>G ENSP00000376066.3:p.Pro558=
ENST00000447527.1:c.806A>G
ENST00000472488.5:n.1777A>G
NM_000702.3:c.1674A>G NP_000693.1:p.Pro558=
NM_000702.4:c.1674A>G MANE Select NP_000693.1:p.Pro558=
Search 100 bp 5'
Search 100 bp 3'