Canonical Allele Identifier: CA1769227363
Gene: ATP6V1B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20224379T>A , CM000670.2:g.20224379T>A GRCh38
NC_000008.10:g.20081890T>A , CM000670.1:g.20081890T>A GRCh37
NC_000008.9:g.20126170T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521442.1:c.102-903T>A
XR_002956632.1:n.6989T>A
XR_002956633.1:n.7457T>A