Canonical Allele Identifier: CA347180432

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1553419357
• gnomAD v2: 2-71185176-T-C
• gnomAD v4: 2-70958046-T-C
• MyVariant Identifiers: chr2:g.71185176T>C (hg19) ; chr2:g.70958046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958046T>C , CM000664.2:g.70958046T>C	GRCh38
NC_000002.11:g.71185176T>C , CM000664.1:g.71185176T>C	GRCh37
NC_000002.10:g.71038684T>C	NCBI36
NG_008016.1:g.27179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.175T>C (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Phe59Leu
ENST00000432098.2:n.341T>C (ATP6V1B1)
ENST00000432367.6:c.379T>C (VAX2)
ENST00000454446.6:c.175T>C (ATP6V1B1)	ENSP00000408361.2:p.Phe59Leu
ENST00000646783.1:c.211T>C (VAX2)
ENST00000234396.8:c.175T>C (ATP6V1B1)	ENSP00000234396.4:p.Phe59Leu
ENST00000412314.5:c.175T>C (ATP6V1B1)	ENSP00000388353.1:p.Phe59Leu
ENST00000432098.1:c.-186T>C (ATP6V1B1)	ENSP00000387599.1:n.-186T>C
ENST00000432367.5:c.175T>C (ATP6V1B1)	ENSP00000405114.1:p.Phe59Leu
ENST00000453130.1:c.143-9671A>G
ENST00000454446.5:c.226T>C (ATP6V1B1)	ENSP00000408361.1:p.Phe76Leu
ENST00000463380.1:n.276T>C (ATP6V1B1)
ENST00000606025.5:c.476-15613A>G	ENSP00000475641.1:n.476-15613A>G
NM_001692.3:c.175T>C (ATP6V1B1)	NP_001683.2:p.Phe59Leu
XM_011532907.1:c.295T>C (ATP6V1B1)	XP_011531209.1:p.Phe99Leu
NM_001692.4:c.175T>C (ATP6V1B1) MANE Select	NP_001683.2:p.Phe59Leu
XM_011532907.2:c.295T>C (ATP6V1B1)	XP_011531209.1:p.Phe99Leu