Canonical Allele Identifier: CA1700960

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 1153257
• ClinVar RCV Id: RCV001494897 ; RCV002506570
• dbSNP Id: rs151191933
• ExAC: 2:71185232 C / T
• gnomAD v2: 2-71185232-C-T
• gnomAD v3: 2-70958102-C-T
• gnomAD v4: 2-70958102-C-T
• MyVariant Identifiers: chr2:g.71185232C>T (hg19) ; chr2:g.70958102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958102C>T , CM000664.2:g.70958102C>T	GRCh38
NC_000002.11:g.71185232C>T , CM000664.1:g.71185232C>T	GRCh37
NC_000002.10:g.71038740C>T	NCBI36
NG_008016.1:g.27235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.231C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Ser77=
ENST00000432098.2:n.397C>T (ATP6V1B1)
ENST00000432367.6:c.435C>T (VAX2)
ENST00000454446.6:c.231C>T (ATP6V1B1)	ENSP00000408361.2:p.Ser77=
ENST00000646783.1:c.267C>T (VAX2)
ENST00000234396.8:c.231C>T (ATP6V1B1)	ENSP00000234396.4:p.Ser77=
ENST00000412314.5:c.231C>T (ATP6V1B1)	ENSP00000388353.1:p.Ser77=
ENST00000432098.1:c.-130C>T (ATP6V1B1)	ENSP00000387599.1:n.-130C>T
ENST00000432367.5:c.231C>T (ATP6V1B1)	ENSP00000405114.1:p.Ser77=
ENST00000453130.1:c.143-9727G>A
ENST00000454446.5:c.282C>T (ATP6V1B1)	ENSP00000408361.1:p.Ser94=
ENST00000463380.1:n.332C>T (ATP6V1B1)
ENST00000606025.5:c.476-15669G>A	ENSP00000475641.1:n.476-15669G>A
NM_001692.3:c.231C>T (ATP6V1B1)	NP_001683.2:p.Ser77=
XM_011532907.1:c.351C>T (ATP6V1B1)	XP_011531209.1:p.Ser117=
NM_001692.4:c.231C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Ser77=
XM_011532907.2:c.351C>T (ATP6V1B1)	XP_011531209.1:p.Ser117=