Canonical Allele Identifier: CA343256671
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1810671
ClinVar RCV Id: RCV002510158 RCV002571580
gnomAD v4: 1-160139972-C-T
COSMIC: COSM676777
MyVariant Identifiers: chr1:g.160109762C>T (hg19) chr1:g.160139972C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139972C>T , CM000663.2:g.160139972C>T GRCh38
NC_000001.10:g.160109762C>T , CM000663.1:g.160109762C>T GRCh37
NC_000001.9:g.158376386C>T NCBI36
NG_008014.1:g.29215C>T , LRG_6:g.29215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3022C>T MANE Select ENSP00000354490.3:p.Arg1008Trp
ENST00000361216.7:c.3022C>T ENSP00000354490.3:p.Arg1008Trp
ENST00000392233.7:c.2989C>T ENSP00000376066.3:p.Arg997Trp
ENST00000447527.1:c.2103C>T
ENST00000459972.1:n.14C>T
ENST00000463989.1:n.358C>T
NM_000702.3:c.3022C>T NP_000693.1:p.Arg1008Trp
NM_000702.4:c.3022C>T MANE Select NP_000693.1:p.Arg1008Trp
Search 100 bp 5'
Search 100 bp 3'