Canonical Allele Identifier: CA256653
Gene: ATP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160123228C>T
GRCh37 chr1:g.160093018C>T
Revel Score:
ENST00000361216 (MANE Select) 0.661
ENST00000392233 0.661
gnomAD v2:
1:160093018 C / T
gnomAD v3:
1:160123228 C / T
gnomAD v4:
chr1-160123228-C-T
Joint Max Group AF 0.0000859 (NFE)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00008388 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160123228C>T , CM000663.2:g.160123228C>T GRCh38
NC_000001.10:g.160093018C>T , CM000663.1:g.160093018C>T GRCh37
NC_000001.9:g.158359642C>T NCBI36
NG_008014.1:g.12471C>T , LRG_6:g.12471C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.193C>T MANE Select ENSP00000354490.3:p.Arg65Trp
ENST00000361216.7:c.193C>T ENSP00000354490.3:p.Arg65Trp
ENST00000392233.7:c.193C>T ENSP00000376066.3:p.Arg65Trp
ENST00000472488.5:n.296C>T
NM_000702.3:c.193C>T NP_000693.1:p.Arg65Trp
NM_000702.4:c.193C>T MANE Select NP_000693.1:p.Arg65Trp
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