Canonical Allele Identifier: CA2045981

Gene: SATB2

Linked Data

• ClinVar Variation Id: 1946123
• ClinVar RCV Id: RCV002658673
• dbSNP Id: rs778684147
• ExAC: 2:200213630 C / T
• gnomAD v2: 2-200213630-C-T
• gnomAD v3: 2-199348907-C-T
• gnomAD v4: 2-199348907-C-T
• MyVariant Identifiers: chr2:g.200213630C>T (hg19) ; chr2:g.199348907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348907C>T , CM000664.2:g.199348907C>T	GRCh38
NC_000002.11:g.200213630C>T , CM000664.1:g.200213630C>T	GRCh37
NC_000002.10:g.199921875C>T	NCBI36
NG_016976.1:g.127360G>A
NG_016976.2:g.127360G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000428695.6:c.613G>A	ENSP00000388581.1:p.Val205Ile
ENST00000700191.1:c.613G>A	ENSP00000514853.1:p.Val205Ile
ENST00000700193.1:c.967G>A	ENSP00000514854.1:p.Val323Ile
ENST00000700208.1:c.347-76235G>A	ENSP00000514860.1:n.347-76235G>A
ENST00000700210.1:c.621G>A
ENST00000417098.6:c.967G>A MANE Select	ENSP00000401112.1:p.Val323Ile
ENST00000260926.9:c.967G>A	ENSP00000260926.5:p.Val323Ile
ENST00000417098.5:c.967G>A	ENSP00000401112.1:p.Val323Ile
ENST00000428695.5:c.613G>A	ENSP00000388581.1:p.Val205Ile
ENST00000443023.5:c.790G>A	ENSP00000388764.1:p.Val264Ile
ENST00000457245.5:c.967G>A	ENSP00000405420.1:p.Val323Ile
ENST00000483346.2:n.606G>A
ENST00000614512.4:c.613G>A	ENSP00000483287.1:p.Val205Ile
NM_001172509.1:c.967G>A	NP_001165980.1:p.Val323Ile
NM_001172517.1:c.967G>A	NP_001165988.1:p.Val323Ile
NM_015265.3:c.967G>A	NP_056080.1:p.Val323Ile
XM_005246396.1:c.793G>A	XP_005246453.1:p.Val265Ile
XM_006712372.1:c.967G>A	XP_006712435.1:p.Val323Ile
XM_011510840.1:c.967G>A	XP_011509142.1:p.Val323Ile
XM_005246396.3:c.793G>A	XP_005246453.1:p.Val265Ile
XM_011510840.3:c.967G>A	XP_011509142.1:p.Val323Ile
XM_017003656.1:c.793G>A	XP_016859145.1:p.Val265Ile
XM_024452767.1:c.544G>A	XP_024308535.1:p.Val182Ile
XM_024452768.1:c.544G>A	XP_024308536.1:p.Val182Ile
NM_001172509.2:c.967G>A MANE Select	NP_001165980.1:p.Val323Ile
NM_015265.4:c.967G>A	NP_056080.1:p.Val323Ile