Canonical Allele Identifier: CA287472438
Gene: ATP1B2 HGNC NCBI

Linked Data

dbSNP Id: rs1008969106

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7648834C>A , CM000679.2:g.7648834C>A GRCh38
NC_000017.10:g.7552152C>A , CM000679.1:g.7552152C>A GRCh37
NC_000017.9:g.7492877C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577026.5:c.-6+2133C>A ENSP00000459145.1:n.-6+2133C>A
NM_001303263.1:c.-6+2133C>A NP_001290192.1:n.-6+2133C>A
NM_001303263.2:c.-6+2133C>A NP_001290192.1:n.-6+2133C>A