Canonical Allele Identifier: CA343237037
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1371813756

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127573T>C , CM000663.2:g.160127573T>C GRCh38
NC_000001.10:g.160097363T>C , CM000663.1:g.160097363T>C GRCh37
NC_000001.9:g.158363987T>C NCBI36
NG_008014.1:g.16816T>C , LRG_6:g.16816T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.770T>C MANE Select ENSP00000354490.3:p.Ile257Thr
ENST00000361216.7:c.770T>C ENSP00000354490.3:p.Ile257Thr
ENST00000392233.7:c.770T>C ENSP00000376066.3:p.Ile257Thr
ENST00000472488.5:n.873T>C
NM_000702.3:c.770T>C NP_000693.1:p.Ile257Thr
NM_000702.4:c.770T>C MANE Select NP_000693.1:p.Ile257Thr