Canonical Allele Identifier: CA343237012
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1323226822
MyVariant Identifiers: chr1:g.160097360T>C (hg19) chr1:g.160127570T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127570T>C , CM000663.2:g.160127570T>C GRCh38
NC_000001.10:g.160097360T>C , CM000663.1:g.160097360T>C GRCh37
NC_000001.9:g.158363984T>C NCBI36
NG_008014.1:g.16813T>C , LRG_6:g.16813T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.767T>C MANE Select ENSP00000354490.3:p.Val256Ala
ENST00000361216.7:c.767T>C ENSP00000354490.3:p.Val256Ala
ENST00000392233.7:c.767T>C ENSP00000376066.3:p.Val256Ala
ENST00000472488.5:n.870T>C
NM_000702.3:c.767T>C NP_000693.1:p.Val256Ala
NM_000702.4:c.767T>C MANE Select NP_000693.1:p.Val256Ala
Search 100 bp 5'
Search 100 bp 3'