Canonical Allele Identifier: CA775164048
Gene: ATP1B2 HGNC NCBI

Linked Data

dbSNP Id: rs1359173047
gnomAD v3: 17-7648809-T-C
gnomAD v4: 17-7648809-T-C
MyVariant Identifiers: chr17:g.7552127T>C (hg19) chr17:g.7648809T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7648809T>C , CM000679.2:g.7648809T>C GRCh38
NC_000017.10:g.7552127T>C , CM000679.1:g.7552127T>C GRCh37
NC_000017.9:g.7492852T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577026.5:c.-6+2108T>C ENSP00000459145.1:n.-6+2108T>C
NM_001303263.1:c.-6+2108T>C NP_001290192.1:n.-6+2108T>C
NM_001303263.2:c.-6+2108T>C NP_001290192.1:n.-6+2108T>C
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