Canonical Allele Identifier: CA624719149
Gene: ATP1B2 HGNC NCBI

Linked Data

dbSNP Id: rs1336712271
gnomAD v2: 17-7552141-G-A
gnomAD v3: 17-7648823-G-A
gnomAD v4: 17-7648823-G-A
MyVariant Identifiers: chr17:g.7552141G>A (hg19) chr17:g.7648823G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7648823G>A , CM000679.2:g.7648823G>A GRCh38
NC_000017.10:g.7552141G>A , CM000679.1:g.7552141G>A GRCh37
NC_000017.9:g.7492866G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577026.5:c.-6+2122G>A ENSP00000459145.1:n.-6+2122G>A
NM_001303263.1:c.-6+2122G>A NP_001290192.1:n.-6+2122G>A
NM_001303263.2:c.-6+2122G>A NP_001290192.1:n.-6+2122G>A
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