Canonical Allele Identifier: CA775158959
Gene: ATP1B2 HGNC NCBI

Linked Data

dbSNP Id: rs1390516060
gnomAD v3: 17-7654532-G-A
gnomAD v4: 17-7654532-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7654532G>A , CM000679.2:g.7654532G>A GRCh38
NC_000017.10:g.7557850G>A , CM000679.1:g.7557850G>A GRCh37
NC_000017.9:g.7498575G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250111.9:c.553-96G>A MANE Select ENSP00000250111.4:n.553-96G>A
ENST00000250111.8:c.553-96G>A ENSP00000250111.4:n.553-96G>A
ENST00000577026.5:c.307-96G>A ENSP00000459145.1:n.307-96G>A
ENST00000577113.1:c.150-96G>A
NM_001303263.1:c.307-96G>A NP_001290192.1:n.307-96G>A
NM_001678.4:c.553-96G>A NP_001669.3:n.553-96G>A
NM_001678.5:c.553-96G>A MANE Select NP_001669.3:n.553-96G>A
NM_001303263.2:c.307-96G>A NP_001290192.1:n.307-96G>A