Canonical Allele Identifier: CA347180712

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 852126
• ClinVar RCV Id: RCV001056680
• dbSNP Id: rs140341636
• gnomAD v2: 2-71185236-C-T
• gnomAD v3: 2-70958106-C-T
• gnomAD v4: 2-70958106-C-T
• MyVariant Identifiers: chr2:g.71185236C>T (hg19) ; chr2:g.70958106C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.235C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln79Ter
ENST00000432098.2:n.401C>T (ATP6V1B1)
ENST00000432367.6:c.439C>T (VAX2)
ENST00000454446.6:c.235C>T (ATP6V1B1)	ENSP00000408361.2:p.Gln79Ter
ENST00000646783.1:c.271C>T (VAX2)
ENST00000234396.8:c.235C>T (ATP6V1B1)	ENSP00000234396.4:p.Gln79Ter
ENST00000412314.5:c.235C>T (ATP6V1B1)	ENSP00000388353.1:p.Gln79Ter
ENST00000432098.1:c.-126C>T (ATP6V1B1)	ENSP00000387599.1:n.-126C>T
ENST00000432367.5:c.235C>T (ATP6V1B1)	ENSP00000405114.1:p.Gln79Ter
ENST00000453130.1:c.143-9731G>A
ENST00000454446.5:c.286C>T (ATP6V1B1)	ENSP00000408361.1:p.Gln96Ter
ENST00000463380.1:n.336C>T (ATP6V1B1)
ENST00000606025.5:c.476-15673G>A	ENSP00000475641.1:n.476-15673G>A
NM_001692.3:c.235C>T (ATP6V1B1)	NP_001683.2:p.Gln79Ter
XM_011532907.1:c.355C>T (ATP6V1B1)	XP_011531209.1:p.Gln119Ter
NM_001692.4:c.235C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Gln79Ter
XM_011532907.2:c.355C>T (ATP6V1B1)	XP_011531209.1:p.Gln119Ter