Canonical Allele Identifier: CA1700941

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 2913389
• ClinVar RCV Id: RCV003738882
• dbSNP Id: rs555307787
• ExAC: 2:71185160 T / C
• gnomAD v2: 2-71185160-T-C
• gnomAD v3: 2-70958030-T-C
• gnomAD v4: 2-70958030-T-C
• MyVariant Identifiers: chr2:g.71185160T>C (hg19) ; chr2:g.70958030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958030T>C , CM000664.2:g.70958030T>C	GRCh38
NC_000002.11:g.71185160T>C , CM000664.1:g.71185160T>C	GRCh37
NC_000002.10:g.71038668T>C	NCBI36
NG_008016.1:g.27163T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.175-16T>C (ATP6V1B1) MANE Select	ENSP00000234396.4:n.175-16T>C
ENST00000432098.2:n.341-16T>C (ATP6V1B1)
ENST00000432367.6:c.379-16T>C (VAX2)
ENST00000454446.6:c.175-16T>C (ATP6V1B1)	ENSP00000408361.2:n.175-16T>C
ENST00000646783.1:c.211-16T>C (VAX2)
ENST00000234396.8:c.175-16T>C (ATP6V1B1)	ENSP00000234396.4:n.175-16T>C
ENST00000412314.5:c.175-16T>C (ATP6V1B1)	ENSP00000388353.1:n.175-16T>C
ENST00000432098.1:c.-186-16T>C (ATP6V1B1)	ENSP00000387599.1:n.-186-16T>C
ENST00000432367.5:c.175-16T>C (ATP6V1B1)	ENSP00000405114.1:n.175-16T>C
ENST00000453130.1:c.143-9655A>G
ENST00000454446.5:c.226-16T>C (ATP6V1B1)	ENSP00000408361.1:n.226-16T>C
ENST00000463380.1:n.260T>C (ATP6V1B1)
ENST00000606025.5:c.476-15597A>G	ENSP00000475641.1:n.476-15597A>G
NM_001692.3:c.175-16T>C (ATP6V1B1)	NP_001683.2:n.175-16T>C
XM_011532907.1:c.295-16T>C (ATP6V1B1)	XP_011531209.1:n.295-16T>C
NM_001692.4:c.175-16T>C (ATP6V1B1) MANE Select	NP_001683.2:n.175-16T>C
XM_011532907.2:c.295-16T>C (ATP6V1B1)	XP_011531209.1:n.295-16T>C