Canonical Allele Identifier: CA173413866

Gene: ATP6V1B2

Linked Data

• dbSNP Id: rs899739701
• gnomAD v2: 8-20065982-GATAAA-G
• gnomAD v3: 8-20208471-GATAAA-G
• gnomAD v4: 8-20208471-GATAAA-G
• MyVariant Identifiers: chr8:g.20065983_20065987del (hg19) ; chr8:g.20208472_20208476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20208476_20208480del , CM000670.2:g.20208476_20208480del	GRCh38
NC_000008.10:g.20065987_20065991del , CM000670.1:g.20065987_20065991del	GRCh37
NC_000008.9:g.20110267_20110271del	NCBI36
NG_047013.1:g.16284_16288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000276390.7:c.193-957_193-953del MANE Select	ENSP00000276390.2:n.193-957_193-953del
ENST00000276390.6:c.193-957_193-953del	ENSP00000276390.2:n.193-957_193-953del
ENST00000519667.1:c.161-957_161-953del
ENST00000520830.1:c.301-957_301-953del
ENST00000523478.5:c.193-965_193-961del	ENSP00000430154.1:n.193-965_193-961del
ENST00000523482.5:n.197-957_197-953del
NM_001693.3:c.193-957_193-953del	NP_001684.2:n.193-957_193-953del
XR_002956632.1:n.225-957_225-953del
XR_002956633.1:n.225-957_225-953del
NM_001693.4:c.193-957_193-953del MANE Select	NP_001684.2:n.193-957_193-953del