Canonical Allele Identifier: CA347180632

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958086-A-T
• MyVariant Identifiers: chr2:g.71185216A>T (hg19) ; chr2:g.70958086A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958086A>T , CM000664.2:g.70958086A>T	GRCh38
NC_000002.11:g.71185216A>T , CM000664.1:g.71185216A>T	GRCh37
NC_000002.10:g.71038724A>T	NCBI36
NG_008016.1:g.27219A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.215A>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Asp72Val
ENST00000432098.2:n.381A>T (ATP6V1B1)
ENST00000432367.6:c.419A>T (VAX2)
ENST00000454446.6:c.215A>T (ATP6V1B1)	ENSP00000408361.2:p.Asp72Val
ENST00000646783.1:c.251A>T (VAX2)
ENST00000234396.8:c.215A>T (ATP6V1B1)	ENSP00000234396.4:p.Asp72Val
ENST00000412314.5:c.215A>T (ATP6V1B1)	ENSP00000388353.1:p.Asp72Val
ENST00000432098.1:c.-146A>T (ATP6V1B1)	ENSP00000387599.1:n.-146A>T
ENST00000432367.5:c.215A>T (ATP6V1B1)	ENSP00000405114.1:p.Asp72Val
ENST00000453130.1:c.143-9711T>A
ENST00000454446.5:c.266A>T (ATP6V1B1)	ENSP00000408361.1:p.Asp89Val
ENST00000463380.1:n.316A>T (ATP6V1B1)
ENST00000606025.5:c.476-15653T>A	ENSP00000475641.1:n.476-15653T>A
NM_001692.3:c.215A>T (ATP6V1B1)	NP_001683.2:p.Asp72Val
XM_011532907.1:c.335A>T (ATP6V1B1)	XP_011531209.1:p.Asp112Val
NM_001692.4:c.215A>T (ATP6V1B1) MANE Select	NP_001683.2:p.Asp72Val
XM_011532907.2:c.335A>T (ATP6V1B1)	XP_011531209.1:p.Asp112Val