Canonical Allele Identifier: CA533654943

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1553419406
• gnomAD v2: 2-71185324-AT-A
• MyVariant Identifiers: chr2:g.71185325del (hg19) ; chr2:g.70958195del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958195del , CM000664.2:g.70958195del	GRCh38
NC_000002.11:g.71185325del , CM000664.1:g.71185325del	GRCh37
NC_000002.10:g.71038833del	NCBI36
NG_008016.1:g.27328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.273+51del (ATP6V1B1) MANE Select	ENSP00000234396.4:n.273+51del
ENST00000432098.2:n.439+51del (ATP6V1B1)
ENST00000432367.6:c.477+51del (VAX2)
ENST00000454446.6:c.273+51del (ATP6V1B1)	ENSP00000408361.2:n.273+51del
ENST00000646783.1:c.309+51del (VAX2)
ENST00000234396.8:c.273+51del (ATP6V1B1)	ENSP00000234396.4:n.273+51del
ENST00000412314.5:c.273+51del (ATP6V1B1)	ENSP00000388353.1:n.273+51del
ENST00000432098.1:c.-88+51del (ATP6V1B1)	ENSP00000387599.1:n.-88+51del
ENST00000432367.5:c.273+51del (ATP6V1B1)	ENSP00000405114.1:n.273+51del
ENST00000453130.1:c.143-9820del
ENST00000454446.5:c.324+51del (ATP6V1B1)	ENSP00000408361.1:n.324+51del
ENST00000463380.1:n.374+51del (ATP6V1B1)
ENST00000606025.5:c.476-15762del	ENSP00000475641.1:n.476-15762del
NM_001692.3:c.273+51del (ATP6V1B1)	NP_001683.2:n.273+51del
XM_011532907.1:c.393+51del (ATP6V1B1)	XP_011531209.1:n.393+51del
NM_001692.4:c.273+51del (ATP6V1B1) MANE Select	NP_001683.2:n.273+51del
XM_011532907.2:c.393+51del (ATP6V1B1)	XP_011531209.1:n.393+51del