Canonical Allele Identifier: CA343256758
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 434440
ClinVar RCV Id: RCV000500694
dbSNP Id: rs1553246149
MyVariant Identifiers: chr1:g.160109771G>T (hg19) chr1:g.160139981G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139981G>T , CM000663.2:g.160139981G>T GRCh38
NC_000001.10:g.160109771G>T , CM000663.1:g.160109771G>T GRCh37
NC_000001.9:g.158376395G>T NCBI36
NG_008014.1:g.29224G>T , LRG_6:g.29224G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3031G>T MANE Select ENSP00000354490.3:p.Gly1011Cys
ENST00000361216.7:c.3031G>T ENSP00000354490.3:p.Gly1011Cys
ENST00000392233.7:c.2998G>T ENSP00000376066.3:p.Gly1000Cys
ENST00000447527.1:c.2112G>T
ENST00000459972.1:n.23G>T
ENST00000463989.1:n.367G>T
NM_000702.3:c.3031G>T NP_000693.1:p.Gly1011Cys
NM_000702.4:c.3031G>T MANE Select NP_000693.1:p.Gly1011Cys
Search 100 bp 5'
Search 100 bp 3'