Canonical Allele Identifier: CA347180471

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958054-G-C
• MyVariant Identifiers: chr2:g.71185184G>C (hg19) ; chr2:g.70958054G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958054G>C , CM000664.2:g.70958054G>C	GRCh38
NC_000002.11:g.71185184G>C , CM000664.1:g.71185184G>C	GRCh37
NC_000002.10:g.71038692G>C	NCBI36
NG_008016.1:g.27187G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.183G>C (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln61His
ENST00000432098.2:n.349G>C (ATP6V1B1)
ENST00000432367.6:c.387G>C (VAX2)
ENST00000454446.6:c.183G>C (ATP6V1B1)	ENSP00000408361.2:p.Gln61His
ENST00000646783.1:c.219G>C (VAX2)
ENST00000234396.8:c.183G>C (ATP6V1B1)	ENSP00000234396.4:p.Gln61His
ENST00000412314.5:c.183G>C (ATP6V1B1)	ENSP00000388353.1:p.Gln61His
ENST00000432098.1:c.-178G>C (ATP6V1B1)	ENSP00000387599.1:n.-178G>C
ENST00000432367.5:c.183G>C (ATP6V1B1)	ENSP00000405114.1:p.Gln61His
ENST00000453130.1:c.143-9679C>G
ENST00000454446.5:c.234G>C (ATP6V1B1)	ENSP00000408361.1:p.Gln78His
ENST00000463380.1:n.284G>C (ATP6V1B1)
ENST00000606025.5:c.476-15621C>G	ENSP00000475641.1:n.476-15621C>G
NM_001692.3:c.183G>C (ATP6V1B1)	NP_001683.2:p.Gln61His
XM_011532907.1:c.303G>C (ATP6V1B1)	XP_011531209.1:p.Gln101His
NM_001692.4:c.183G>C (ATP6V1B1) MANE Select	NP_001683.2:p.Gln61His
XM_011532907.2:c.303G>C (ATP6V1B1)	XP_011531209.1:p.Gln101His