Canonical Allele Identifier: CA2573135876

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 1406127
• ClinVar RCV Id: RCV001915671
• dbSNP Id: rs2104825177

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958113_70958116dup , CM000664.2:g.70958113_70958116dup	GRCh38
NC_000002.11:g.71185243_71185246dup , CM000664.1:g.71185243_71185246dup	GRCh37
NC_000002.10:g.71038751_71038754dup	NCBI36
NG_008016.1:g.27246_27249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.242_245dup (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Glu82AspfsTer2
ENST00000432098.2:n.408_411dup (ATP6V1B1)
ENST00000432367.6:c.446_449dup (VAX2)
ENST00000454446.6:c.242_245dup (ATP6V1B1)	ENSP00000408361.2:p.Glu82AspfsTer2
ENST00000646783.1:c.278_281dup (VAX2)
ENST00000234396.8:c.242_245dup (ATP6V1B1)	ENSP00000234396.4:p.Glu82AspfsTer2
ENST00000412314.5:c.242_245dup (ATP6V1B1)	ENSP00000388353.1:p.Glu82AspfsTer2
ENST00000432098.1:c.-119_-116dup (ATP6V1B1)	ENSP00000387599.1:n.-119_-116dup
ENST00000432367.5:c.242_245dup (ATP6V1B1)	ENSP00000405114.1:p.Glu82AspfsTer2
ENST00000453130.1:c.143-9741_143-9738dup
ENST00000454446.5:c.293_296dup (ATP6V1B1)	ENSP00000408361.1:p.Glu99AspfsTer2
ENST00000463380.1:n.343_346dup (ATP6V1B1)
ENST00000606025.5:c.476-15683_476-15680dup	ENSP00000475641.1:n.476-15683_476-15680dup
NM_001692.3:c.242_245dup (ATP6V1B1)	NP_001683.2:p.Glu82AspfsTer2
XM_011532907.1:c.362_365dup (ATP6V1B1)	XP_011531209.1:p.Glu122AspfsTer2
NM_001692.4:c.242_245dup (ATP6V1B1) MANE Select	NP_001683.2:p.Glu82AspfsTer2
XM_011532907.2:c.362_365dup (ATP6V1B1)	XP_011531209.1:p.Glu122AspfsTer2