Canonical Allele Identifier: CA347180461

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs373621560
• gnomAD v4: 2-70958052-C-G
• MyVariant Identifiers: chr2:g.71185182C>G (hg19) ; chr2:g.70958052C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958052C>G , CM000664.2:g.70958052C>G	GRCh38
NC_000002.11:g.71185182C>G , CM000664.1:g.71185182C>G	GRCh37
NC_000002.10:g.71038690C>G	NCBI36
NG_008016.1:g.27185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.181C>G (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln61Glu
ENST00000432098.2:n.347C>G (ATP6V1B1)
ENST00000432367.6:c.385C>G (VAX2)
ENST00000454446.6:c.181C>G (ATP6V1B1)	ENSP00000408361.2:p.Gln61Glu
ENST00000646783.1:c.217C>G (VAX2)
ENST00000234396.8:c.181C>G (ATP6V1B1)	ENSP00000234396.4:p.Gln61Glu
ENST00000412314.5:c.181C>G (ATP6V1B1)	ENSP00000388353.1:p.Gln61Glu
ENST00000432098.1:c.-180C>G (ATP6V1B1)	ENSP00000387599.1:n.-180C>G
ENST00000432367.5:c.181C>G (ATP6V1B1)	ENSP00000405114.1:p.Gln61Glu
ENST00000453130.1:c.143-9677G>C
ENST00000454446.5:c.232C>G (ATP6V1B1)	ENSP00000408361.1:p.Gln78Glu
ENST00000463380.1:n.282C>G (ATP6V1B1)
ENST00000606025.5:c.476-15619G>C	ENSP00000475641.1:n.476-15619G>C
NM_001692.3:c.181C>G (ATP6V1B1)	NP_001683.2:p.Gln61Glu
XM_011532907.1:c.301C>G (ATP6V1B1)	XP_011531209.1:p.Gln101Glu
NM_001692.4:c.181C>G (ATP6V1B1) MANE Select	NP_001683.2:p.Gln61Glu
XM_011532907.2:c.301C>G (ATP6V1B1)	XP_011531209.1:p.Gln101Glu