Canonical Allele Identifier: CA347180719

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958108-G-C
• MyVariant Identifiers: chr2:g.71185238G>C (hg19) ; chr2:g.70958108G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958108G>C , CM000664.2:g.70958108G>C	GRCh38
NC_000002.11:g.71185238G>C , CM000664.1:g.71185238G>C	GRCh37
NC_000002.10:g.71038746G>C	NCBI36
NG_008016.1:g.27241G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.237G>C (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln79His
ENST00000432098.2:n.403G>C (ATP6V1B1)
ENST00000432367.6:c.441G>C (VAX2)
ENST00000454446.6:c.237G>C (ATP6V1B1)	ENSP00000408361.2:p.Gln79His
ENST00000646783.1:c.273G>C (VAX2)
ENST00000234396.8:c.237G>C (ATP6V1B1)	ENSP00000234396.4:p.Gln79His
ENST00000412314.5:c.237G>C (ATP6V1B1)	ENSP00000388353.1:p.Gln79His
ENST00000432098.1:c.-124G>C (ATP6V1B1)	ENSP00000387599.1:n.-124G>C
ENST00000432367.5:c.237G>C (ATP6V1B1)	ENSP00000405114.1:p.Gln79His
ENST00000453130.1:c.143-9733C>G
ENST00000454446.5:c.288G>C (ATP6V1B1)	ENSP00000408361.1:p.Gln96His
ENST00000463380.1:n.338G>C (ATP6V1B1)
ENST00000606025.5:c.476-15675C>G	ENSP00000475641.1:n.476-15675C>G
NM_001692.3:c.237G>C (ATP6V1B1)	NP_001683.2:p.Gln79His
XM_011532907.1:c.357G>C (ATP6V1B1)	XP_011531209.1:p.Gln119His
NM_001692.4:c.237G>C (ATP6V1B1) MANE Select	NP_001683.2:p.Gln79His
XM_011532907.2:c.357G>C (ATP6V1B1)	XP_011531209.1:p.Gln119His