Canonical Allele Identifier: CA313258
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 204877
ClinVar RCV Id: RCV000186778 RCV000467699 RCV000858861 RCV001098104 RCV001098105 RCV002259724 RCV002259725 RCV002312733
dbSNP Id: rs138826759
ExAC: 1:160109707 C / T
gnomAD v2: 1-160109707-C-T
gnomAD v3: 1-160139917-C-T
gnomAD v4: 1-160139917-C-T
MyVariant Identifiers: chr1:g.160109707C>T (hg19) chr1:g.160139917C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139917C>T , CM000663.2:g.160139917C>T GRCh38
NC_000001.10:g.160109707C>T , CM000663.1:g.160109707C>T GRCh37
NC_000001.9:g.158376331C>T NCBI36
NG_008014.1:g.29160C>T , LRG_6:g.29160C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2967C>T MANE Select ENSP00000354490.3:p.Phe989=
ENST00000361216.7:c.2967C>T ENSP00000354490.3:p.Phe989=
ENST00000392233.7:c.2943-9C>T ENSP00000376066.3:n.2943-9C>T
ENST00000447527.1:c.2048C>T
ENST00000463989.1:n.303C>T
NM_000702.3:c.2967C>T NP_000693.1:p.Phe989=
NM_000702.4:c.2967C>T MANE Select NP_000693.1:p.Phe989=
Search 100 bp 5'
Search 100 bp 3'