Canonical Allele Identifier: CA343239566
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 641357
ClinVar RCV Id: RCV000794585
dbSNP Id: rs1570988778
gnomAD v4: 1-160128784-A-G
MyVariant Identifiers: chr1:g.160098574A>G (hg19) chr1:g.160128784A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160128784A>G , CM000663.2:g.160128784A>G GRCh38
NC_000001.10:g.160098574A>G , CM000663.1:g.160098574A>G GRCh37
NC_000001.9:g.158365198A>G NCBI36
NG_008014.1:g.18027A>G , LRG_6:g.18027A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1150A>G MANE Select ENSP00000354490.3:p.Met384Val
ENST00000361216.7:c.1150A>G ENSP00000354490.3:p.Met384Val
ENST00000392233.7:c.1150A>G ENSP00000376066.3:p.Met384Val
ENST00000447527.1:c.282A>G
ENST00000472488.5:n.1253A>G
NM_000702.3:c.1150A>G NP_000693.1:p.Met384Val
NM_000702.4:c.1150A>G MANE Select NP_000693.1:p.Met384Val
Search 100 bp 5'
Search 100 bp 3'