Canonical Allele Identifier: CA347180800

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1680488055
• MyVariant Identifiers: chr2:g.71185260A>G (hg19) ; chr2:g.70958130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958130A>G , CM000664.2:g.70958130A>G	GRCh38
NC_000002.11:g.71185260A>G , CM000664.1:g.71185260A>G	GRCh37
NC_000002.10:g.71038768A>G	NCBI36
NG_008016.1:g.27263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.259A>G (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Lys87Glu
ENST00000432098.2:n.425A>G (ATP6V1B1)
ENST00000432367.6:c.463A>G (VAX2)
ENST00000454446.6:c.259A>G (ATP6V1B1)	ENSP00000408361.2:p.Lys87Glu
ENST00000646783.1:c.295A>G (VAX2)
ENST00000234396.8:c.259A>G (ATP6V1B1)	ENSP00000234396.4:p.Lys87Glu
ENST00000412314.5:c.259A>G (ATP6V1B1)	ENSP00000388353.1:p.Lys87Glu
ENST00000432098.1:c.-102A>G (ATP6V1B1)	ENSP00000387599.1:n.-102A>G
ENST00000432367.5:c.259A>G (ATP6V1B1)	ENSP00000405114.1:p.Lys87Glu
ENST00000453130.1:c.143-9755T>C
ENST00000454446.5:c.310A>G (ATP6V1B1)	ENSP00000408361.1:p.Lys104Glu
ENST00000463380.1:n.360A>G (ATP6V1B1)
ENST00000606025.5:c.476-15697T>C	ENSP00000475641.1:n.476-15697T>C
NM_001692.3:c.259A>G (ATP6V1B1)	NP_001683.2:p.Lys87Glu
XM_011532907.1:c.379A>G (ATP6V1B1)	XP_011531209.1:p.Lys127Glu
NM_001692.4:c.259A>G (ATP6V1B1) MANE Select	NP_001683.2:p.Lys87Glu
XM_011532907.2:c.379A>G (ATP6V1B1)	XP_011531209.1:p.Lys127Glu