Canonical Allele Identifier: CA351608

Gene: VAX2

Linked Data

• ClinVar Variation Id: 221930
• ClinVar RCV Id: RCV000207416
• dbSNP Id: rs869025255
• gnomAD v2: 2-71148378-C-T
• gnomAD v4: 2-70921248-C-T
• MyVariant Identifiers: chr2:g.71148378C>T (hg19) ; chr2:g.70921248C>T (hg38)
• PubMed: PMID:26893459

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70921248C>T , CM000664.2:g.70921248C>T	GRCh38
NC_000002.11:g.71148378C>T , CM000664.1:g.71148378C>T	GRCh37
NC_000002.10:g.71001886C>T	NCBI36
NG_030009.1:g.25659C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234392.3:c.398C>T MANE Select	ENSP00000234392.2:p.Thr133Ile
ENST00000432367.6:c.222C>T
ENST00000646783.1:c.42C>T
ENST00000234392.2:c.398C>T	ENSP00000234392.2:p.Thr133Ile
NM_012476.2:c.398C>T	NP_036608.1:p.Thr133Ile
XM_006711982.2:c.398C>T	XP_006712045.1:p.Thr133Ile
XM_011532749.1:c.398C>T	XP_011531051.1:p.Thr133Ile
XM_011532750.1:c.398C>T	XP_011531052.1:p.Thr133Ile
XM_011532751.1:c.398C>T	XP_011531053.1:p.Thr133Ile
XM_011532752.1:c.398C>T	XP_011531054.1:p.Thr133Ile
XM_006711982.4:c.398C>T	XP_006712045.1:p.Thr133Ile
XM_011532750.3:c.398C>T	XP_011531052.1:p.Thr133Ile
XM_011532751.3:c.398C>T	XP_011531053.1:p.Thr133Ile
NM_012476.3:c.398C>T MANE Select	NP_036608.1:p.Thr133Ile