Canonical Allele Identifier: CA624719166
Gene: ATP1B2 HGNC NCBI

Linked Data

dbSNP Id: rs1423628267
gnomAD v2: 17-7552228-C-T
gnomAD v3: 17-7648910-C-T
gnomAD v4: 17-7648910-C-T
MyVariant Identifiers: chr17:g.7552228C>T (hg19) chr17:g.7648910C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7648910C>T , CM000679.2:g.7648910C>T GRCh38
NC_000017.10:g.7552228C>T , CM000679.1:g.7552228C>T GRCh37
NC_000017.9:g.7492953C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577026.5:c.-6+2209C>T ENSP00000459145.1:n.-6+2209C>T
NM_001303263.1:c.-6+2209C>T NP_001290192.1:n.-6+2209C>T
NM_001303263.2:c.-6+2209C>T NP_001290192.1:n.-6+2209C>T
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