Canonical Allele Identifier: CA347180876

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1572919396
• MyVariant Identifiers: chr2:g.71185270T>C (hg19) ; chr2:g.70958140T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958140T>C , CM000664.2:g.70958140T>C	GRCh38
NC_000002.11:g.71185270T>C , CM000664.1:g.71185270T>C	GRCh37
NC_000002.10:g.71038778T>C	NCBI36
NG_008016.1:g.27273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.269T>C (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Val90Ala
ENST00000432098.2:n.435T>C (ATP6V1B1)
ENST00000432367.6:c.473T>C (VAX2)
ENST00000454446.6:c.269T>C (ATP6V1B1)	ENSP00000408361.2:p.Val90Ala
ENST00000646783.1:c.305T>C (VAX2)
ENST00000234396.8:c.269T>C (ATP6V1B1)	ENSP00000234396.4:p.Val90Ala
ENST00000412314.5:c.269T>C (ATP6V1B1)	ENSP00000388353.1:p.Val90Ala
ENST00000432098.1:c.-92T>C (ATP6V1B1)	ENSP00000387599.1:n.-92T>C
ENST00000432367.5:c.269T>C (ATP6V1B1)	ENSP00000405114.1:p.Val90Ala
ENST00000453130.1:c.143-9765A>G
ENST00000454446.5:c.320T>C (ATP6V1B1)	ENSP00000408361.1:p.Val107Ala
ENST00000463380.1:n.370T>C (ATP6V1B1)
ENST00000606025.5:c.476-15707A>G	ENSP00000475641.1:n.476-15707A>G
NM_001692.3:c.269T>C (ATP6V1B1)	NP_001683.2:p.Val90Ala
XM_011532907.1:c.389T>C (ATP6V1B1)	XP_011531209.1:p.Val130Ala
NM_001692.4:c.269T>C (ATP6V1B1) MANE Select	NP_001683.2:p.Val90Ala
XM_011532907.2:c.389T>C (ATP6V1B1)	XP_011531209.1:p.Val130Ala