Canonical Allele Identifier: CA241895

Gene: ATP1A2

Linked Data

• ClinVar Variation Id: 195466
• ClinVar RCV Id: RCV000186775 ; RCV000333644 ; RCV000388105 ; RCV000724819 ; RCV001093738 ; RCV002433768
• dbSNP Id: rs146839867
• ExAC: 1:160106732 G / A
• gnomAD v2: 1-160106732-G-A
• gnomAD v3: 1-160136942-G-A
• gnomAD v4: 1-160136942-G-A
• MyVariant Identifiers: chr1:g.160106732G>A (hg19) ; chr1:g.160136942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160136942G>A , CM000663.2:g.160136942G>A	GRCh38
NC_000001.10:g.160106732G>A , CM000663.1:g.160106732G>A	GRCh37
NC_000001.9:g.158373356G>A	NCBI36
NG_008014.1:g.26185G>A , LRG_6:g.26185G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361216.8:c.2751G>A MANE Select	ENSP00000354490.3:p.Thr917=
ENST00000361216.7:c.2751G>A	ENSP00000354490.3:p.Thr917=
ENST00000392233.7:c.2751G>A	ENSP00000376066.3:p.Thr917=
ENST00000447527.1:c.1832G>A
ENST00000463989.1:n.87G>A
ENST00000472488.5:n.2854G>A
NM_000702.3:c.2751G>A	NP_000693.1:p.Thr917=
NM_000702.4:c.2751G>A MANE Select	NP_000693.1:p.Thr917=