Canonical Allele Identifier: CA624719147
Gene: ATP1B2 HGNC NCBI

Linked Data

dbSNP Id: rs1293606619
gnomAD v2: 17-7552125-T-G
gnomAD v3: 17-7648807-T-G
gnomAD v4: 17-7648807-T-G
MyVariant Identifiers: chr17:g.7552125T>G (hg19) chr17:g.7648807T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7648807T>G , CM000679.2:g.7648807T>G GRCh38
NC_000017.10:g.7552125T>G , CM000679.1:g.7552125T>G GRCh37
NC_000017.9:g.7492850T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000577026.5:c.-6+2106T>G ENSP00000459145.1:n.-6+2106T>G
NM_001303263.1:c.-6+2106T>G NP_001290192.1:n.-6+2106T>G
NM_001303263.2:c.-6+2106T>G NP_001290192.1:n.-6+2106T>G
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