Canonical Allele Identifier: CA14472744
Gene: ATP1B2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7656359G>A
GRCh37 chr17:g.7559677G>A
gnomAD v2:
17:7559677 G / A
gnomAD v3:
17:7656359 G / A
gnomAD v4:
chr17-7656359-G-A
Joint Max Group AF 0.8252862 (MID)
Genomes Max Group AF 0.76341923 (NFE)
Exomes Max Group AF 0.75413421 (NFE)
dbSNP:
1641511
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7656359G>A , CM000679.2:g.7656359G>A GRCh38
NC_000017.10:g.7559677G>A , CM000679.1:g.7559677G>A GRCh37
NC_000017.9:g.7500402G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250111.9:c.*464G>A MANE Select ENSP00000250111.4:n.*464G>A
ENST00000250111.8:c.*464G>A ENSP00000250111.4:n.*464G>A
NM_001303263.1:c.*464G>A NP_001290192.1:n.*464G>A
NM_001678.4:c.*464G>A NP_001669.3:n.*464G>A
NM_001678.5:c.*464G>A MANE Select NP_001669.3:n.*464G>A
NM_001303263.2:c.*464G>A NP_001290192.1:n.*464G>A
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