Canonical Allele Identifier: CA1700961

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 1120853
• ClinVar RCV Id: RCV001450930
• dbSNP Id: rs782523725
• ExAC: 2:71185235 G / A
• gnomAD v2: 2-71185235-G-A
• gnomAD v3: 2-70958105-G-A
• gnomAD v4: 2-70958105-G-A
• MyVariant Identifiers: chr2:g.71185235G>A (hg19) ; chr2:g.70958105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958105G>A , CM000664.2:g.70958105G>A	GRCh38
NC_000002.11:g.71185235G>A , CM000664.1:g.71185235G>A	GRCh37
NC_000002.10:g.71038743G>A	NCBI36
NG_008016.1:g.27238G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.234G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gly78=
ENST00000432098.2:n.400G>A (ATP6V1B1)
ENST00000432367.6:c.438G>A (VAX2)
ENST00000454446.6:c.234G>A (ATP6V1B1)	ENSP00000408361.2:p.Gly78=
ENST00000646783.1:c.270G>A (VAX2)
ENST00000234396.8:c.234G>A (ATP6V1B1)	ENSP00000234396.4:p.Gly78=
ENST00000412314.5:c.234G>A (ATP6V1B1)	ENSP00000388353.1:p.Gly78=
ENST00000432098.1:c.-127G>A (ATP6V1B1)	ENSP00000387599.1:n.-127G>A
ENST00000432367.5:c.234G>A (ATP6V1B1)	ENSP00000405114.1:p.Gly78=
ENST00000453130.1:c.143-9730C>T
ENST00000454446.5:c.285G>A (ATP6V1B1)	ENSP00000408361.1:p.Gly95=
ENST00000463380.1:n.335G>A (ATP6V1B1)
ENST00000606025.5:c.476-15672C>T	ENSP00000475641.1:n.476-15672C>T
NM_001692.3:c.234G>A (ATP6V1B1)	NP_001683.2:p.Gly78=
XM_011532907.1:c.354G>A (ATP6V1B1)	XP_011531209.1:p.Gly118=
NM_001692.4:c.234G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Gly78=
XM_011532907.2:c.354G>A (ATP6V1B1)	XP_011531209.1:p.Gly118=