Canonical Allele Identifier: CA347180506

Gene: ATP6V1B1 VAX2

Linked Data

• MyVariant Identifiers: chr2:g.71185191G>T (hg19) ; chr2:g.70958061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958061G>T , CM000664.2:g.70958061G>T	GRCh38
NC_000002.11:g.71185191G>T , CM000664.1:g.71185191G>T	GRCh37
NC_000002.10:g.71038699G>T	NCBI36
NG_008016.1:g.27194G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.190G>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Glu64Ter
ENST00000432098.2:n.356G>T (ATP6V1B1)
ENST00000432367.6:c.394G>T (VAX2)
ENST00000454446.6:c.190G>T (ATP6V1B1)	ENSP00000408361.2:p.Glu64Ter
ENST00000646783.1:c.226G>T (VAX2)
ENST00000234396.8:c.190G>T (ATP6V1B1)	ENSP00000234396.4:p.Glu64Ter
ENST00000412314.5:c.190G>T (ATP6V1B1)	ENSP00000388353.1:p.Glu64Ter
ENST00000432098.1:c.-171G>T (ATP6V1B1)	ENSP00000387599.1:n.-171G>T
ENST00000432367.5:c.190G>T (ATP6V1B1)	ENSP00000405114.1:p.Glu64Ter
ENST00000453130.1:c.143-9686C>A
ENST00000454446.5:c.241G>T (ATP6V1B1)	ENSP00000408361.1:p.Glu81Ter
ENST00000463380.1:n.291G>T (ATP6V1B1)
ENST00000606025.5:c.476-15628C>A	ENSP00000475641.1:n.476-15628C>A
NM_001692.3:c.190G>T (ATP6V1B1)	NP_001683.2:p.Glu64Ter
XM_011532907.1:c.310G>T (ATP6V1B1)	XP_011531209.1:p.Glu104Ter
NM_001692.4:c.190G>T (ATP6V1B1) MANE Select	NP_001683.2:p.Glu64Ter
XM_011532907.2:c.310G>T (ATP6V1B1)	XP_011531209.1:p.Glu104Ter