Canonical Allele Identifier: CA2245900237
Gene: ATP1B2 HGNC NCBI

Linked Data

dbSNP Id: rs138128532
gnomAD v4: 17-7654529-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7654529C>A , CM000679.2:g.7654529C>A GRCh38
NC_000017.10:g.7557847C>A , CM000679.1:g.7557847C>A GRCh37
NC_000017.9:g.7498572C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000250111.9:c.553-99C>A MANE Select ENSP00000250111.4:n.553-99C>A
ENST00000250111.8:c.553-99C>A ENSP00000250111.4:n.553-99C>A
ENST00000577026.5:c.307-99C>A ENSP00000459145.1:n.307-99C>A
ENST00000577113.1:c.150-99C>A
NM_001303263.1:c.307-99C>A NP_001290192.1:n.307-99C>A
NM_001678.4:c.553-99C>A NP_001669.3:n.553-99C>A
NM_001678.5:c.553-99C>A MANE Select NP_001669.3:n.553-99C>A
NM_001303263.2:c.307-99C>A NP_001290192.1:n.307-99C>A
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