Canonical Allele Identifier: CA289580

Gene: ATP1A2

Linked Data

• ClinVar Variation Id: 136449
• ClinVar RCV Id: RCV000123759 ; RCV002055423 ; RCV002259659 ; RCV002259660 ; RCV002259662 ; RCV002259661
• dbSNP Id: rs372842016
• ExAC: 1:160100194 C / A
• gnomAD v2: 1-160100194-C-A
• gnomAD v3: 1-160130404-C-A
• gnomAD v4: 1-160130404-C-A
• MyVariant Identifiers: chr1:g.160100194C>A (hg19) ; chr1:g.160130404C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160130404C>A , CM000663.2:g.160130404C>A	GRCh38
NC_000001.10:g.160100194C>A , CM000663.1:g.160100194C>A	GRCh37
NC_000001.9:g.158366818C>A	NCBI36
NG_008014.1:g.19647C>A , LRG_6:g.19647C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.1652-18C>A MANE Select	ENSP00000354490.3:n.1652-18C>A
ENST00000361216.7:c.1652-18C>A	ENSP00000354490.3:n.1652-18C>A
ENST00000392233.7:c.1652-18C>A	ENSP00000376066.3:n.1652-18C>A
ENST00000447527.1:c.784-18C>A
ENST00000472488.5:n.1755-18C>A
NM_000702.3:c.1652-18C>A	NP_000693.1:n.1652-18C>A
NM_000702.4:c.1652-18C>A MANE Select	NP_000693.1:n.1652-18C>A