Canonical Allele Identifier: CA11117814
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI
ATP6V1B1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.70942575C>T
GRCh37 chr2:g.71169705C>T
gnomAD v2:
2:71169705 C / T
gnomAD v3:
2:70942575 C / T
gnomAD v4:
chr2-70942575-C-T
Joint Max Group AF 0.81404002 (SAS)
Genomes Max Group AF 0.81159665 (EAS)
Exomes Max Group AF 0.80841981 (SAS)
dbSNP:
2266917
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70942575C>T , CM000664.2:g.70942575C>T GRCh38
NC_000002.11:g.71169705C>T , CM000664.1:g.71169705C>T GRCh37
NC_000002.10:g.71023213C>T NCBI36
NG_008016.1:g.11708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234396.10:c.119-1083C>T (ATP6V1B1) MANE Select ENSP00000234396.4:n.119-1083C>T
ENST00000432367.6:c.323-1083C>T (VAX2)
ENST00000454446.6:c.119-1083C>T (ATP6V1B1) ENSP00000408361.2:n.119-1083C>T
ENST00000646783.1:c.155-1083C>T (VAX2)
ENST00000234396.8:c.119-1083C>T (ATP6V1B1) ENSP00000234396.4:n.119-1083C>T
ENST00000412314.5:c.119-1083C>T (ATP6V1B1) ENSP00000388353.1:n.119-1083C>T
ENST00000432367.5:c.119-1083C>T (ATP6V1B1) ENSP00000405114.1:n.119-1083C>T
ENST00000606025.5:c.476-142G>A ENSP00000475641.1:n.476-142G>A
NM_001692.3:c.119-1083C>T (ATP6V1B1) NP_001683.2:n.119-1083C>T
NR_110273.1:n.524-142G>A (ATP6V1B1-AS1)
NR_110274.1:n.386-142G>A (ATP6V1B1-AS1)
NM_001692.4:c.119-1083C>T (ATP6V1B1) MANE Select NP_001683.2:n.119-1083C>T
Search 100 bp 5'
Search 100 bp 3'