Canonical Allele Identifier: CA913189844
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 562228
ClinVar RCV Id: RCV000760136
dbSNP Id: rs1558008455
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160135285_160135286del , CM000663.2:g.160135285_160135286del GRCh38
NC_000001.10:g.160105075_160105076del , CM000663.1:g.160105075_160105076del GRCh37
NC_000001.9:g.158371699_158371700del NCBI36
NG_008014.1:g.24528_24529del , LRG_6:g.24528_24529del

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2105_2106del MANE Select ENSP00000354490.3:p.Cys702SerfsTer12
ENST00000361216.7:c.2105_2106del ENSP00000354490.3:p.Cys702SerfsTer12
ENST00000392233.7:c.2105_2106del ENSP00000376066.3:p.Cys702SerfsTer12
ENST00000447527.1:c.1237_1238del
ENST00000472488.5:n.2208_2209del
NM_000702.3:c.2105_2106del NP_000693.1:p.Cys702SerfsTer12
NM_000702.4:c.2105_2106del MANE Select NP_000693.1:p.Cys702SerfsTer12
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