Canonical Allele Identifier: CA426692479

Gene: ATP6V1B1 VAX2

Linked Data

• MyVariant Identifiers: chr2:g.71185223T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958093T>A , CM000664.2:g.70958093T>A	GRCh38
NC_000002.11:g.71185223T>A , CM000664.1:g.71185223T>A	GRCh37
NC_000002.10:g.71038731T>A	NCBI36
NG_008016.1:g.27226T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.222T>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Thr74=
ENST00000432098.2:n.388T>A (ATP6V1B1)
ENST00000432367.6:c.426T>A (VAX2)
ENST00000454446.6:c.222T>A (ATP6V1B1)	ENSP00000408361.2:p.Thr74=
ENST00000646783.1:c.258T>A (VAX2)
ENST00000234396.8:c.222T>A (ATP6V1B1)	ENSP00000234396.4:p.Thr74=
ENST00000412314.5:c.222T>A (ATP6V1B1)	ENSP00000388353.1:p.Thr74=
ENST00000432098.1:c.-139T>A (ATP6V1B1)	ENSP00000387599.1:n.-139T>A
ENST00000432367.5:c.222T>A (ATP6V1B1)	ENSP00000405114.1:p.Thr74=
ENST00000453130.1:c.143-9718A>T
ENST00000454446.5:c.273T>A (ATP6V1B1)	ENSP00000408361.1:p.Thr91=
ENST00000463380.1:n.323T>A (ATP6V1B1)
ENST00000606025.5:c.476-15660A>T	ENSP00000475641.1:n.476-15660A>T
NM_001692.3:c.222T>A (ATP6V1B1)	NP_001683.2:p.Thr74=
XM_011532907.1:c.342T>A (ATP6V1B1)	XP_011531209.1:p.Thr114=
NM_001692.4:c.222T>A (ATP6V1B1) MANE Select	NP_001683.2:p.Thr74=
XM_011532907.2:c.342T>A (ATP6V1B1)	XP_011531209.1:p.Thr114=