Canonical Allele Identifier: CA347180796

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1680487993
• gnomAD v4: 2-70958128-C-T
• MyVariant Identifiers: chr2:g.71185258C>T (hg19) ; chr2:g.70958128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958128C>T , CM000664.2:g.70958128C>T	GRCh38
NC_000002.11:g.71185258C>T , CM000664.1:g.71185258C>T	GRCh37
NC_000002.10:g.71038766C>T	NCBI36
NG_008016.1:g.27261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.257C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Thr86Ile
ENST00000432098.2:n.423C>T (ATP6V1B1)
ENST00000432367.6:c.461C>T (VAX2)
ENST00000454446.6:c.257C>T (ATP6V1B1)	ENSP00000408361.2:p.Thr86Ile
ENST00000646783.1:c.293C>T (VAX2)
ENST00000234396.8:c.257C>T (ATP6V1B1)	ENSP00000234396.4:p.Thr86Ile
ENST00000412314.5:c.257C>T (ATP6V1B1)	ENSP00000388353.1:p.Thr86Ile
ENST00000432098.1:c.-104C>T (ATP6V1B1)	ENSP00000387599.1:n.-104C>T
ENST00000432367.5:c.257C>T (ATP6V1B1)	ENSP00000405114.1:p.Thr86Ile
ENST00000453130.1:c.143-9753G>A
ENST00000454446.5:c.308C>T (ATP6V1B1)	ENSP00000408361.1:p.Thr103Ile
ENST00000463380.1:n.358C>T (ATP6V1B1)
ENST00000606025.5:c.476-15695G>A	ENSP00000475641.1:n.476-15695G>A
NM_001692.3:c.257C>T (ATP6V1B1)	NP_001683.2:p.Thr86Ile
XM_011532907.1:c.377C>T (ATP6V1B1)	XP_011531209.1:p.Thr126Ile
NM_001692.4:c.257C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Thr86Ile
XM_011532907.2:c.377C>T (ATP6V1B1)	XP_011531209.1:p.Thr126Ile