Canonical Allele Identifier: CA347180651

Gene: ATP6V1B1 VAX2

Linked Data

• MyVariant Identifiers: chr2:g.71185219G>T (hg19) ; chr2:g.70958089G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958089G>T , CM000664.2:g.70958089G>T	GRCh38
NC_000002.11:g.71185219G>T , CM000664.1:g.71185219G>T	GRCh37
NC_000002.10:g.71038727G>T	NCBI36
NG_008016.1:g.27222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.218G>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gly73Val
ENST00000432098.2:n.384G>T (ATP6V1B1)
ENST00000432367.6:c.422G>T (VAX2)
ENST00000454446.6:c.218G>T (ATP6V1B1)	ENSP00000408361.2:p.Gly73Val
ENST00000646783.1:c.254G>T (VAX2)
ENST00000234396.8:c.218G>T (ATP6V1B1)	ENSP00000234396.4:p.Gly73Val
ENST00000412314.5:c.218G>T (ATP6V1B1)	ENSP00000388353.1:p.Gly73Val
ENST00000432098.1:c.-143G>T (ATP6V1B1)	ENSP00000387599.1:n.-143G>T
ENST00000432367.5:c.218G>T (ATP6V1B1)	ENSP00000405114.1:p.Gly73Val
ENST00000453130.1:c.143-9714C>A
ENST00000454446.5:c.269G>T (ATP6V1B1)	ENSP00000408361.1:p.Gly90Val
ENST00000463380.1:n.319G>T (ATP6V1B1)
ENST00000606025.5:c.476-15656C>A	ENSP00000475641.1:n.476-15656C>A
NM_001692.3:c.218G>T (ATP6V1B1)	NP_001683.2:p.Gly73Val
XM_011532907.1:c.338G>T (ATP6V1B1)	XP_011531209.1:p.Gly113Val
NM_001692.4:c.218G>T (ATP6V1B1) MANE Select	NP_001683.2:p.Gly73Val
XM_011532907.2:c.338G>T (ATP6V1B1)	XP_011531209.1:p.Gly113Val