Canonical Allele Identifier: CA313254
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 204875
ClinVar RCV Id: RCV000186776 RCV002259718 RCV002259719 RCV002259720 RCV002259721 RCV001618337
dbSNP Id: rs397775888
ExAC: 1:160109408 A / AC
gnomAD v2: 1-160109408-A-AC
gnomAD v3: 1-160139618-A-AC
gnomAD v4: 1-160139618-A-AC
MyVariant Identifiers: chr1:g.160109410dupC (hg19) chr1:g.160109408_160109409insC (hg19) chr1:g.160139620dupC (hg38) chr1:g.160139618_160139619insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139620dup , CM000663.2:g.160139620dup GRCh38
NC_000001.10:g.160109410dup , CM000663.1:g.160109410dup GRCh37
NC_000001.9:g.158376034dup NCBI36
NG_008014.1:g.28863dup , LRG_6:g.28863dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.2841-20dup MANE Select ENSP00000354490.3:n.2841-20dup
ENST00000361216.7:c.2841-20dup ENSP00000354490.3:n.2841-20dup
ENST00000392233.7:c.2841-20dup ENSP00000376066.3:n.2841-20dup
ENST00000447527.1:c.1922-20dup
ENST00000463989.1:n.177-20dup
NM_000702.3:c.2841-20dup NP_000693.1:n.2841-20dup
NM_000702.4:c.2841-20dup MANE Select NP_000693.1:n.2841-20dup
Search 100 bp 5'
Search 100 bp 3'