Canonical Allele Identifier: CA347180879

Gene: ATP6V1B1 VAX2

Linked Data

• COSMIC: COSM6349310
• MyVariant Identifiers: chr2:g.71185272C>G (hg19) ; chr2:g.70958142C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958142C>G , CM000664.2:g.70958142C>G	GRCh38
NC_000002.11:g.71185272C>G , CM000664.1:g.71185272C>G	GRCh37
NC_000002.10:g.71038780C>G	NCBI36
NG_008016.1:g.27275C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.271C>G (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln91Glu
ENST00000432098.2:n.437C>G (ATP6V1B1)
ENST00000432367.6:c.475C>G (VAX2)
ENST00000454446.6:c.271C>G (ATP6V1B1)	ENSP00000408361.2:p.Gln91Glu
ENST00000646783.1:c.307C>G (VAX2)
ENST00000234396.8:c.271C>G (ATP6V1B1)	ENSP00000234396.4:p.Gln91Glu
ENST00000412314.5:c.271C>G (ATP6V1B1)	ENSP00000388353.1:p.Gln91Glu
ENST00000432098.1:c.-90C>G (ATP6V1B1)	ENSP00000387599.1:n.-90C>G
ENST00000432367.5:c.271C>G (ATP6V1B1)	ENSP00000405114.1:p.Gln91Glu
ENST00000453130.1:c.143-9767G>C
ENST00000454446.5:c.322C>G (ATP6V1B1)	ENSP00000408361.1:p.Gln108Glu
ENST00000463380.1:n.372C>G (ATP6V1B1)
ENST00000606025.5:c.476-15709G>C	ENSP00000475641.1:n.476-15709G>C
NM_001692.3:c.271C>G (ATP6V1B1)	NP_001683.2:p.Gln91Glu
XM_011532907.1:c.391C>G (ATP6V1B1)	XP_011531209.1:p.Gln131Glu
NM_001692.4:c.271C>G (ATP6V1B1) MANE Select	NP_001683.2:p.Gln91Glu
XM_011532907.2:c.391C>G (ATP6V1B1)	XP_011531209.1:p.Gln131Glu