Canonical Allele Identifier: CA426692576

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958108-G-A
• MyVariant Identifiers: chr2:g.71185238G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958108G>A , CM000664.2:g.70958108G>A	GRCh38
NC_000002.11:g.71185238G>A , CM000664.1:g.71185238G>A	GRCh37
NC_000002.10:g.71038746G>A	NCBI36
NG_008016.1:g.27241G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.237G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln79=
ENST00000432098.2:n.403G>A (ATP6V1B1)
ENST00000432367.6:c.441G>A (VAX2)
ENST00000454446.6:c.237G>A (ATP6V1B1)	ENSP00000408361.2:p.Gln79=
ENST00000646783.1:c.273G>A (VAX2)
ENST00000234396.8:c.237G>A (ATP6V1B1)	ENSP00000234396.4:p.Gln79=
ENST00000412314.5:c.237G>A (ATP6V1B1)	ENSP00000388353.1:p.Gln79=
ENST00000432098.1:c.-124G>A (ATP6V1B1)	ENSP00000387599.1:n.-124G>A
ENST00000432367.5:c.237G>A (ATP6V1B1)	ENSP00000405114.1:p.Gln79=
ENST00000453130.1:c.143-9733C>T
ENST00000454446.5:c.288G>A (ATP6V1B1)	ENSP00000408361.1:p.Gln96=
ENST00000463380.1:n.338G>A (ATP6V1B1)
ENST00000606025.5:c.476-15675C>T	ENSP00000475641.1:n.476-15675C>T
NM_001692.3:c.237G>A (ATP6V1B1)	NP_001683.2:p.Gln79=
XM_011532907.1:c.357G>A (ATP6V1B1)	XP_011531209.1:p.Gln119=
NM_001692.4:c.237G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Gln79=
XM_011532907.2:c.357G>A (ATP6V1B1)	XP_011531209.1:p.Gln119=