Canonical Allele Identifier: CA2635879621
Gene: ATP1B2 HGNC NCBI

Linked Data

gnomAD v4: 17-7654525-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7654525C>T , CM000679.2:g.7654525C>T GRCh38
NC_000017.10:g.7557843C>T , CM000679.1:g.7557843C>T GRCh37
NC_000017.9:g.7498568C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000250111.9:c.553-103C>T MANE Select ENSP00000250111.4:n.553-103C>T
ENST00000250111.8:c.553-103C>T ENSP00000250111.4:n.553-103C>T
ENST00000577026.5:c.307-103C>T ENSP00000459145.1:n.307-103C>T
ENST00000577113.1:c.150-103C>T
NM_001303263.1:c.307-103C>T NP_001290192.1:n.307-103C>T
NM_001678.4:c.553-103C>T NP_001669.3:n.553-103C>T
NM_001678.5:c.553-103C>T MANE Select NP_001669.3:n.553-103C>T
NM_001303263.2:c.307-103C>T NP_001290192.1:n.307-103C>T
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