Canonical Allele Identifier: CA182049

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 178290
• ClinVar RCV Id: RCV000155034 ; RCV000490321 ; RCV000885591
• dbSNP Id: rs142905621
• ExAC: 2:71192103 G / A
• gnomAD v2: 2-71192103-G-A
• gnomAD v3: 2-70964973-G-A
• gnomAD v4: 2-70964973-G-A
• MyVariant Identifiers: chr2:g.71192103G>A (hg19) ; chr2:g.70964973G>A (hg38)
• PubMed: PMID:12579397

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964973G>A , CM000664.2:g.70964973G>A	GRCh38
NC_000002.11:g.71192103G>A , CM000664.1:g.71192103G>A	GRCh37
NC_000002.10:g.71045611G>A	NCBI36
NG_008016.1:g.34106G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.1394G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Arg465His
ENST00000432367.6:c.1447G>A (VAX2)
ENST00000433895.2:c.326G>A (ATP6V1B1)	ENSP00000407840.2:p.Arg109His
ENST00000234396.8:c.1394G>A (ATP6V1B1)	ENSP00000234396.4:p.Arg465His
ENST00000412314.5:c.1343G>A (ATP6V1B1)	ENSP00000388353.1:p.Arg448His
ENST00000432367.5:c.*672G>A (ATP6V1B1)	ENSP00000405114.1:n.*672G>A
ENST00000433895.1:c.209G>A (ATP6V1B1)	ENSP00000407840.1:p.Arg70His
ENST00000453130.1:c.143-16598C>T
ENST00000606025.5:c.476-22540C>T	ENSP00000475641.1:n.476-22540C>T
NM_001692.3:c.1394G>A (ATP6V1B1)	NP_001683.2:p.Arg465His
XM_011532907.1:c.1514G>A (ATP6V1B1)	XP_011531209.1:p.Arg505His
NM_001692.4:c.1394G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Arg465His
XM_011532907.2:c.1514G>A (ATP6V1B1)	XP_011531209.1:p.Arg505His