Canonical Allele Identifier: CA343237498
Gene: ATP1A2 HGNC NCBI

Linked Data

COSMIC: COSM6238674
MyVariant Identifiers: chr1:g.160097414G>T (hg19) chr1:g.160127624G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127624G>T , CM000663.2:g.160127624G>T GRCh38
NC_000001.10:g.160097414G>T , CM000663.1:g.160097414G>T GRCh37
NC_000001.9:g.158364038G>T NCBI36
NG_008014.1:g.16867G>T , LRG_6:g.16867G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.821G>T MANE Select ENSP00000354490.3:p.Gly274Val
ENST00000361216.7:c.821G>T ENSP00000354490.3:p.Gly274Val
ENST00000392233.7:c.821G>T ENSP00000376066.3:p.Gly274Val
ENST00000472488.5:n.924G>T
NM_000702.3:c.821G>T NP_000693.1:p.Gly274Val
NM_000702.4:c.821G>T MANE Select NP_000693.1:p.Gly274Val
Search 100 bp 5'
Search 100 bp 3'