Canonical Allele Identifier: CA1700962

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs140341636
• ExAC: 2:71185236 C / A
• gnomAD v3: 2-70958106-C-A
• gnomAD v4: 2-70958106-C-A
• MyVariant Identifiers: chr2:g.71185236C>A (hg19) ; chr2:g.70958106C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958106C>A , CM000664.2:g.70958106C>A	GRCh38
NC_000002.11:g.71185236C>A , CM000664.1:g.71185236C>A	GRCh37
NC_000002.10:g.71038744C>A	NCBI36
NG_008016.1:g.27239C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.235C>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln79Lys
ENST00000432098.2:n.401C>A (ATP6V1B1)
ENST00000432367.6:c.439C>A (VAX2)
ENST00000454446.6:c.235C>A (ATP6V1B1)	ENSP00000408361.2:p.Gln79Lys
ENST00000646783.1:c.271C>A (VAX2)
ENST00000234396.8:c.235C>A (ATP6V1B1)	ENSP00000234396.4:p.Gln79Lys
ENST00000412314.5:c.235C>A (ATP6V1B1)	ENSP00000388353.1:p.Gln79Lys
ENST00000432098.1:c.-126C>A (ATP6V1B1)	ENSP00000387599.1:n.-126C>A
ENST00000432367.5:c.235C>A (ATP6V1B1)	ENSP00000405114.1:p.Gln79Lys
ENST00000453130.1:c.143-9731G>T
ENST00000454446.5:c.286C>A (ATP6V1B1)	ENSP00000408361.1:p.Gln96Lys
ENST00000463380.1:n.336C>A (ATP6V1B1)
ENST00000606025.5:c.476-15673G>T	ENSP00000475641.1:n.476-15673G>T
NM_001692.3:c.235C>A (ATP6V1B1)	NP_001683.2:p.Gln79Lys
XM_011532907.1:c.355C>A (ATP6V1B1)	XP_011531209.1:p.Gln119Lys
NM_001692.4:c.235C>A (ATP6V1B1) MANE Select	NP_001683.2:p.Gln79Lys
XM_011532907.2:c.355C>A (ATP6V1B1)	XP_011531209.1:p.Gln119Lys