Canonical Allele Identifier: CA426692324

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958063-G-A
• MyVariant Identifiers: chr2:g.71185193G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958063G>A , CM000664.2:g.70958063G>A	GRCh38
NC_000002.11:g.71185193G>A , CM000664.1:g.71185193G>A	GRCh37
NC_000002.10:g.71038701G>A	NCBI36
NG_008016.1:g.27196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.192G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Glu64=
ENST00000432098.2:n.358G>A (ATP6V1B1)
ENST00000432367.6:c.396G>A (VAX2)
ENST00000454446.6:c.192G>A (ATP6V1B1)	ENSP00000408361.2:p.Glu64=
ENST00000646783.1:c.228G>A (VAX2)
ENST00000234396.8:c.192G>A (ATP6V1B1)	ENSP00000234396.4:p.Glu64=
ENST00000412314.5:c.192G>A (ATP6V1B1)	ENSP00000388353.1:p.Glu64=
ENST00000432098.1:c.-169G>A (ATP6V1B1)	ENSP00000387599.1:n.-169G>A
ENST00000432367.5:c.192G>A (ATP6V1B1)	ENSP00000405114.1:p.Glu64=
ENST00000453130.1:c.143-9688C>T
ENST00000454446.5:c.243G>A (ATP6V1B1)	ENSP00000408361.1:p.Glu81=
ENST00000463380.1:n.293G>A (ATP6V1B1)
ENST00000606025.5:c.476-15630C>T	ENSP00000475641.1:n.476-15630C>T
NM_001692.3:c.192G>A (ATP6V1B1)	NP_001683.2:p.Glu64=
XM_011532907.1:c.312G>A (ATP6V1B1)	XP_011531209.1:p.Glu104=
NM_001692.4:c.192G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Glu64=
XM_011532907.2:c.312G>A (ATP6V1B1)	XP_011531209.1:p.Glu104=