Canonical Allele Identifier: CA347180660

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958092-C-G
• MyVariant Identifiers: chr2:g.71185222C>G (hg19) ; chr2:g.70958092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958092C>G , CM000664.2:g.70958092C>G	GRCh38
NC_000002.11:g.71185222C>G , CM000664.1:g.71185222C>G	GRCh37
NC_000002.10:g.71038730C>G	NCBI36
NG_008016.1:g.27225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.221C>G (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Thr74Ser
ENST00000432098.2:n.387C>G (ATP6V1B1)
ENST00000432367.6:c.425C>G (VAX2)
ENST00000454446.6:c.221C>G (ATP6V1B1)	ENSP00000408361.2:p.Thr74Ser
ENST00000646783.1:c.257C>G (VAX2)
ENST00000234396.8:c.221C>G (ATP6V1B1)	ENSP00000234396.4:p.Thr74Ser
ENST00000412314.5:c.221C>G (ATP6V1B1)	ENSP00000388353.1:p.Thr74Ser
ENST00000432098.1:c.-140C>G (ATP6V1B1)	ENSP00000387599.1:n.-140C>G
ENST00000432367.5:c.221C>G (ATP6V1B1)	ENSP00000405114.1:p.Thr74Ser
ENST00000453130.1:c.143-9717G>C
ENST00000454446.5:c.272C>G (ATP6V1B1)	ENSP00000408361.1:p.Thr91Ser
ENST00000463380.1:n.322C>G (ATP6V1B1)
ENST00000606025.5:c.476-15659G>C	ENSP00000475641.1:n.476-15659G>C
NM_001692.3:c.221C>G (ATP6V1B1)	NP_001683.2:p.Thr74Ser
XM_011532907.1:c.341C>G (ATP6V1B1)	XP_011531209.1:p.Thr114Ser
NM_001692.4:c.221C>G (ATP6V1B1) MANE Select	NP_001683.2:p.Thr74Ser
XM_011532907.2:c.341C>G (ATP6V1B1)	XP_011531209.1:p.Thr114Ser