Canonical Allele Identifier: CA173413842

Gene: ATP6V1B2

Linked Data

• dbSNP Id: rs946682582
• gnomAD v3: 8-20208457-C-G
• gnomAD v4: 8-20208457-C-G
• MyVariant Identifiers: chr8:g.20065968C>G (hg19) ; chr8:g.20208457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20208457C>G , CM000670.2:g.20208457C>G	GRCh38
NC_000008.10:g.20065968C>G , CM000670.1:g.20065968C>G	GRCh37
NC_000008.9:g.20110248C>G	NCBI36
NG_047013.1:g.16265C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000276390.7:c.193-976C>G MANE Select	ENSP00000276390.2:n.193-976C>G
ENST00000276390.6:c.193-976C>G	ENSP00000276390.2:n.193-976C>G
ENST00000519667.1:c.161-976C>G
ENST00000520830.1:c.301-976C>G
ENST00000523478.5:c.193-984C>G	ENSP00000430154.1:n.193-984C>G
ENST00000523482.5:n.197-976C>G
NM_001693.3:c.193-976C>G	NP_001684.2:n.193-976C>G
XR_002956632.1:n.225-976C>G
XR_002956633.1:n.225-976C>G
NM_001693.4:c.193-976C>G MANE Select	NP_001684.2:n.193-976C>G