Canonical Allele Identifier: CA347180694

Gene: ATP6V1B1 VAX2

Linked Data

• MyVariant Identifiers: chr2:g.71185230A>T (hg19) ; chr2:g.70958100A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958100A>T , CM000664.2:g.70958100A>T	GRCh38
NC_000002.11:g.71185230A>T , CM000664.1:g.71185230A>T	GRCh37
NC_000002.10:g.71038738A>T	NCBI36
NG_008016.1:g.27233A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.229A>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Ser77Cys
ENST00000432098.2:n.395A>T (ATP6V1B1)
ENST00000432367.6:c.433A>T (VAX2)
ENST00000454446.6:c.229A>T (ATP6V1B1)	ENSP00000408361.2:p.Ser77Cys
ENST00000646783.1:c.265A>T (VAX2)
ENST00000234396.8:c.229A>T (ATP6V1B1)	ENSP00000234396.4:p.Ser77Cys
ENST00000412314.5:c.229A>T (ATP6V1B1)	ENSP00000388353.1:p.Ser77Cys
ENST00000432098.1:c.-132A>T (ATP6V1B1)	ENSP00000387599.1:n.-132A>T
ENST00000432367.5:c.229A>T (ATP6V1B1)	ENSP00000405114.1:p.Ser77Cys
ENST00000453130.1:c.143-9725T>A
ENST00000454446.5:c.280A>T (ATP6V1B1)	ENSP00000408361.1:p.Ser94Cys
ENST00000463380.1:n.330A>T (ATP6V1B1)
ENST00000606025.5:c.476-15667T>A	ENSP00000475641.1:n.476-15667T>A
NM_001692.3:c.229A>T (ATP6V1B1)	NP_001683.2:p.Ser77Cys
XM_011532907.1:c.349A>T (ATP6V1B1)	XP_011531209.1:p.Ser117Cys
NM_001692.4:c.229A>T (ATP6V1B1) MANE Select	NP_001683.2:p.Ser77Cys
XM_011532907.2:c.349A>T (ATP6V1B1)	XP_011531209.1:p.Ser117Cys