Canonical Allele Identifier: CA1194563
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1061976
ClinVar RCV Id: RCV001371644 RCV002550133
dbSNP Id: rs374724827
ExAC: 1:160100260 A / G
gnomAD v2: 1-160100260-A-G
gnomAD v3: 1-160130470-A-G
gnomAD v4: 1-160130470-A-G
MyVariant Identifiers: chr1:g.160100260A>G (hg19) chr1:g.160130470A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130470A>G , CM000663.2:g.160130470A>G GRCh38
NC_000001.10:g.160100260A>G , CM000663.1:g.160100260A>G GRCh37
NC_000001.9:g.158366884A>G NCBI36
NG_008014.1:g.19713A>G , LRG_6:g.19713A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1700A>G MANE Select ENSP00000354490.3:p.Lys567Arg
ENST00000361216.7:c.1700A>G ENSP00000354490.3:p.Lys567Arg
ENST00000392233.7:c.1700A>G ENSP00000376066.3:p.Lys567Arg
ENST00000447527.1:c.832A>G
ENST00000472488.5:n.1803A>G
NM_000702.3:c.1700A>G NP_000693.1:p.Lys567Arg
NM_000702.4:c.1700A>G MANE Select NP_000693.1:p.Lys567Arg
Search 100 bp 5'
Search 100 bp 3'