Canonical Allele Identifier: CA426692599

Gene: ATP6V1B1 VAX2

Linked Data

• MyVariant Identifiers: chr2:g.71185244T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958114T>G , CM000664.2:g.70958114T>G	GRCh38
NC_000002.11:g.71185244T>G , CM000664.1:g.71185244T>G	GRCh37
NC_000002.10:g.71038752T>G	NCBI36
NG_008016.1:g.27247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.243T>G (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Leu81=
ENST00000432098.2:n.409T>G (ATP6V1B1)
ENST00000432367.6:c.447T>G (VAX2)
ENST00000454446.6:c.243T>G (ATP6V1B1)	ENSP00000408361.2:p.Leu81=
ENST00000646783.1:c.279T>G (VAX2)
ENST00000234396.8:c.243T>G (ATP6V1B1)	ENSP00000234396.4:p.Leu81=
ENST00000412314.5:c.243T>G (ATP6V1B1)	ENSP00000388353.1:p.Leu81=
ENST00000432098.1:c.-118T>G (ATP6V1B1)	ENSP00000387599.1:n.-118T>G
ENST00000432367.5:c.243T>G (ATP6V1B1)	ENSP00000405114.1:p.Leu81=
ENST00000453130.1:c.143-9739A>C
ENST00000454446.5:c.294T>G (ATP6V1B1)	ENSP00000408361.1:p.Leu98=
ENST00000463380.1:n.344T>G (ATP6V1B1)
ENST00000606025.5:c.476-15681A>C	ENSP00000475641.1:n.476-15681A>C
NM_001692.3:c.243T>G (ATP6V1B1)	NP_001683.2:p.Leu81=
XM_011532907.1:c.363T>G (ATP6V1B1)	XP_011531209.1:p.Leu121=
NM_001692.4:c.243T>G (ATP6V1B1) MANE Select	NP_001683.2:p.Leu81=
XM_011532907.2:c.363T>G (ATP6V1B1)	XP_011531209.1:p.Leu121=