Canonical Allele Identifier: CA347180748

Gene: ATP6V1B1 VAX2

Linked Data

• MyVariant Identifiers: chr2:g.71185246A>C (hg19) ; chr2:g.70958116A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958116A>C , CM000664.2:g.70958116A>C	GRCh38
NC_000002.11:g.71185246A>C , CM000664.1:g.71185246A>C	GRCh37
NC_000002.10:g.71038754A>C	NCBI36
NG_008016.1:g.27249A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.245A>C (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Glu82Ala
ENST00000432098.2:n.411A>C (ATP6V1B1)
ENST00000432367.6:c.449A>C (VAX2)
ENST00000454446.6:c.245A>C (ATP6V1B1)	ENSP00000408361.2:p.Glu82Ala
ENST00000646783.1:c.281A>C (VAX2)
ENST00000234396.8:c.245A>C (ATP6V1B1)	ENSP00000234396.4:p.Glu82Ala
ENST00000412314.5:c.245A>C (ATP6V1B1)	ENSP00000388353.1:p.Glu82Ala
ENST00000432098.1:c.-116A>C (ATP6V1B1)	ENSP00000387599.1:n.-116A>C
ENST00000432367.5:c.245A>C (ATP6V1B1)	ENSP00000405114.1:p.Glu82Ala
ENST00000453130.1:c.143-9741T>G
ENST00000454446.5:c.296A>C (ATP6V1B1)	ENSP00000408361.1:p.Glu99Ala
ENST00000463380.1:n.346A>C (ATP6V1B1)
ENST00000606025.5:c.476-15683T>G	ENSP00000475641.1:n.476-15683T>G
NM_001692.3:c.245A>C (ATP6V1B1)	NP_001683.2:p.Glu82Ala
XM_011532907.1:c.365A>C (ATP6V1B1)	XP_011531209.1:p.Glu122Ala
NM_001692.4:c.245A>C (ATP6V1B1) MANE Select	NP_001683.2:p.Glu82Ala
XM_011532907.2:c.365A>C (ATP6V1B1)	XP_011531209.1:p.Glu122Ala