Canonical Allele Identifier: CA421600216
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2105646
ClinVar RCV Id: RCV003014973
MyVariant Identifiers: chr1:g.160100279G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130489G>A , CM000663.2:g.160130489G>A GRCh38
NC_000001.10:g.160100279G>A , CM000663.1:g.160100279G>A GRCh37
NC_000001.9:g.158366903G>A NCBI36
NG_008014.1:g.19732G>A , LRG_6:g.19732G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1719G>A MANE Select ENSP00000354490.3:p.Leu573=
ENST00000361216.7:c.1719G>A ENSP00000354490.3:p.Leu573=
ENST00000392233.7:c.1719G>A ENSP00000376066.3:p.Leu573=
ENST00000447527.1:c.851G>A
ENST00000472488.5:n.1822G>A
NM_000702.3:c.1719G>A NP_000693.1:p.Leu573=
NM_000702.4:c.1719G>A MANE Select NP_000693.1:p.Leu573=
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Search 100 bp 3'