Canonical Allele Identifier: CA343254809
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2115573
ClinVar RCV Id: RCV003046526
MyVariant Identifiers: chr1:g.160109431A>C (hg19) chr1:g.160139641A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139641A>C , CM000663.2:g.160139641A>C GRCh38
NC_000001.10:g.160109431A>C , CM000663.1:g.160109431A>C GRCh37
NC_000001.9:g.158376055A>C NCBI36
NG_008014.1:g.28884A>C , LRG_6:g.28884A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2842A>C MANE Select ENSP00000354490.3:p.Asn948His
ENST00000361216.7:c.2842A>C ENSP00000354490.3:p.Asn948His
ENST00000392233.7:c.2842A>C ENSP00000376066.3:p.Asn948His
ENST00000447527.1:c.1923A>C
ENST00000463989.1:n.178A>C
NM_000702.3:c.2842A>C NP_000693.1:p.Asn948His
NM_000702.4:c.2842A>C MANE Select NP_000693.1:p.Asn948His
Search 100 bp 5'
Search 100 bp 3'