Canonical Allele Identifier: CA2576155360
Gene: ATP1B2 HGNC NCBI

Linked Data

gnomAD v4: 17-7654539-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7654539G>T , CM000679.2:g.7654539G>T GRCh38
NC_000017.10:g.7557857G>T , CM000679.1:g.7557857G>T GRCh37
NC_000017.9:g.7498582G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250111.9:c.553-89G>T MANE Select ENSP00000250111.4:n.553-89G>T
ENST00000250111.8:c.553-89G>T ENSP00000250111.4:n.553-89G>T
ENST00000577026.5:c.307-89G>T ENSP00000459145.1:n.307-89G>T
ENST00000577113.1:c.150-89G>T
NM_001303263.1:c.307-89G>T NP_001290192.1:n.307-89G>T
NM_001678.4:c.553-89G>T NP_001669.3:n.553-89G>T
NM_001678.5:c.553-89G>T MANE Select NP_001669.3:n.553-89G>T
NM_001303263.2:c.307-89G>T NP_001290192.1:n.307-89G>T
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