Canonical Allele Identifier: CA287475817
Gene: ATP1B2 HGNC NCBI

Linked Data

dbSNP Id: rs138128532
gnomAD v2: 17-7557847-C-G
gnomAD v3: 17-7654529-C-G
gnomAD v4: 17-7654529-C-G
MyVariant Identifiers: chr17:g.7557847C>G (hg19) chr17:g.7654529C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7654529C>G , CM000679.2:g.7654529C>G GRCh38
NC_000017.10:g.7557847C>G , CM000679.1:g.7557847C>G GRCh37
NC_000017.9:g.7498572C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250111.9:c.553-99C>G MANE Select ENSP00000250111.4:n.553-99C>G
ENST00000250111.8:c.553-99C>G ENSP00000250111.4:n.553-99C>G
ENST00000577026.5:c.307-99C>G ENSP00000459145.1:n.307-99C>G
ENST00000577113.1:c.150-99C>G
NM_001303263.1:c.307-99C>G NP_001290192.1:n.307-99C>G
NM_001678.4:c.553-99C>G NP_001669.3:n.553-99C>G
NM_001678.5:c.553-99C>G MANE Select NP_001669.3:n.553-99C>G
NM_001303263.2:c.307-99C>G NP_001290192.1:n.307-99C>G
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