Canonical Allele Identifier: CA1194879
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 511657
ClinVar RCV Id: RCV000612449 RCV002529684
dbSNP Id: rs776114360
ExAC: 1:160109547 G / A
gnomAD v2: 1-160109547-G-A
gnomAD v3: 1-160139757-G-A
gnomAD v4: 1-160139757-G-A
MyVariant Identifiers: chr1:g.160109547G>A (hg19) chr1:g.160139757G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139757G>A , CM000663.2:g.160139757G>A GRCh38
NC_000001.10:g.160109547G>A , CM000663.1:g.160109547G>A GRCh37
NC_000001.9:g.158376171G>A NCBI36
NG_008014.1:g.29000G>A , LRG_6:g.29000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.2942+16G>A MANE Select ENSP00000354490.3:n.2942+16G>A
ENST00000361216.7:c.2942+16G>A ENSP00000354490.3:n.2942+16G>A
ENST00000392233.7:c.2942+16G>A ENSP00000376066.3:n.2942+16G>A
ENST00000447527.1:c.2023+16G>A
ENST00000463989.1:n.278+16G>A
NM_000702.3:c.2942+16G>A NP_000693.1:n.2942+16G>A
NM_000702.4:c.2942+16G>A MANE Select NP_000693.1:n.2942+16G>A
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