Canonical Allele Identifier: CA343251443
Gene: ATP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160136307C>G
GRCh37 chr1:g.160106097C>G
Revel Score:
ENST00000447527 0.076
ENST00000361216 (MANE Select) 0.671
ENST00000392233 0.671
ENST00000435866 0.671
ClinVar RCV:
RCV001346774
ClinVar Variation:
1042765
dbSNP:
755310507
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160136307C>G , CM000663.2:g.160136307C>G GRCh38
NC_000001.10:g.160106097C>G , CM000663.1:g.160106097C>G GRCh37
NC_000001.9:g.158372721C>G NCBI36
NG_008014.1:g.25550C>G , LRG_6:g.25550C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.2500C>G MANE Select ENSP00000354490.3:p.Arg834Gly
ENST00000361216.7:c.2500C>G ENSP00000354490.3:p.Arg834Gly
ENST00000392233.7:c.2500C>G ENSP00000376066.3:p.Arg834Gly
ENST00000447527.1:c.1632C>G
ENST00000472488.5:n.2603C>G
NM_000702.3:c.2500C>G NP_000693.1:p.Arg834Gly
NM_000702.4:c.2500C>G MANE Select NP_000693.1:p.Arg834Gly
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