Canonical Allele Identifier: CA350387270

Gene: SATB2

Linked Data

• ClinVar Variation Id: 437864
• ClinVar RCV Id: RCV000504570 ; RCV000760865
• dbSNP Id: rs1553493553
• MyVariant Identifiers: chr2:g.200233354C>T (hg19) ; chr2:g.199368631C>T (hg38)
• PubMed: PMID:23788249

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199368631C>T , CM000664.2:g.199368631C>T	GRCh38
NC_000002.11:g.200233354C>T , CM000664.1:g.200233354C>T	GRCh37
NC_000002.10:g.199941599C>T	NCBI36
NG_016976.1:g.107636G>A
NG_016976.2:g.107636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.347-19458G>A	ENSP00000388581.1:n.347-19458G>A
ENST00000700191.1:c.347-19458G>A	ENSP00000514853.1:n.347-19458G>A
ENST00000700193.1:c.674G>A	ENSP00000514854.1:p.Trp225Ter
ENST00000700208.1:c.346+64707G>A	ENSP00000514860.1:n.346+64707G>A
ENST00000700210.1:c.328G>A
ENST00000417098.6:c.674G>A MANE Select	ENSP00000401112.1:p.Trp225Ter
ENST00000260926.9:c.674G>A	ENSP00000260926.5:p.Trp225Ter
ENST00000417098.5:c.674G>A	ENSP00000401112.1:p.Trp225Ter
ENST00000428695.5:c.347-19458G>A	ENSP00000388581.1:n.347-19458G>A
ENST00000443023.5:c.497G>A	ENSP00000388764.1:p.Trp166Ter
ENST00000457245.5:c.674G>A	ENSP00000405420.1:p.Trp225Ter
ENST00000483346.2:n.313G>A
ENST00000484124.1:n.558G>A
ENST00000614512.4:c.347-19458G>A	ENSP00000483287.1:n.347-19458G>A
NM_001172509.1:c.674G>A	NP_001165980.1:p.Trp225Ter
NM_001172517.1:c.674G>A	NP_001165988.1:p.Trp225Ter
NM_015265.3:c.674G>A	NP_056080.1:p.Trp225Ter
XM_005246396.1:c.500G>A	XP_005246453.1:p.Trp167Ter
XM_006712372.1:c.674G>A	XP_006712435.1:p.Trp225Ter
XM_011510840.1:c.674G>A	XP_011509142.1:p.Trp225Ter
XM_005246396.3:c.500G>A	XP_005246453.1:p.Trp167Ter
XM_011510840.3:c.674G>A	XP_011509142.1:p.Trp225Ter
XM_017003656.1:c.500G>A	XP_016859145.1:p.Trp167Ter
XM_024452767.1:c.251G>A	XP_024308535.1:p.Trp84Ter
XM_024452768.1:c.251G>A	XP_024308536.1:p.Trp84Ter
NM_001172509.2:c.674G>A MANE Select	NP_001165980.1:p.Trp225Ter
NM_015265.4:c.674G>A	NP_056080.1:p.Trp225Ter