Canonical Allele Identifier: CA658657193

Gene: SATB2

Linked Data

• ClinVar Variation Id: 452556
• ClinVar RCV Id: RCV000520556
• dbSNP Id: rs1553551647
• MyVariant Identifiers: chr2:g.200213702del (hg19) ; chr2:g.199348979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348981del , CM000664.2:g.199348981del	GRCh38
NC_000002.11:g.200213704del , CM000664.1:g.200213704del	GRCh37
NC_000002.10:g.199921949del	NCBI36
NG_016976.1:g.127288del
NG_016976.2:g.127288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.541del	ENSP00000388581.1:p.Ser181LeufsTer9
ENST00000700191.1:c.541del	ENSP00000514853.1:p.Ser181LeufsTer9
ENST00000700193.1:c.895del	ENSP00000514854.1:p.Ser299LeufsTer9
ENST00000700208.1:c.347-76307del	ENSP00000514860.1:n.347-76307del
ENST00000700210.1:c.549del
ENST00000417098.6:c.895del MANE Select	ENSP00000401112.1:p.Ser299LeufsTer9
ENST00000260926.9:c.895del	ENSP00000260926.5:p.Ser299LeufsTer9
ENST00000417098.5:c.895del	ENSP00000401112.1:p.Ser299LeufsTer9
ENST00000428695.5:c.541del	ENSP00000388581.1:p.Ser181LeufsTer9
ENST00000443023.5:c.718del	ENSP00000388764.1:p.Ser240LeufsTer9
ENST00000457245.5:c.895del	ENSP00000405420.1:p.Ser299LeufsTer9
ENST00000483346.2:n.534del
ENST00000614512.4:c.541del	ENSP00000483287.1:p.Ser181LeufsTer9
NM_001172509.1:c.895del	NP_001165980.1:p.Ser299LeufsTer9
NM_001172517.1:c.895del	NP_001165988.1:p.Ser299LeufsTer9
NM_015265.3:c.895del	NP_056080.1:p.Ser299LeufsTer9
XM_005246396.1:c.721del	XP_005246453.1:p.Ser241LeufsTer9
XM_006712372.1:c.895del	XP_006712435.1:p.Ser299LeufsTer9
XM_011510840.1:c.895del	XP_011509142.1:p.Ser299LeufsTer9
XM_005246396.3:c.721del	XP_005246453.1:p.Ser241LeufsTer9
XM_011510840.3:c.895del	XP_011509142.1:p.Ser299LeufsTer9
XM_017003656.1:c.721del	XP_016859145.1:p.Ser241LeufsTer9
XM_024452767.1:c.472del	XP_024308535.1:p.Ser158LeufsTer9
XM_024452768.1:c.472del	XP_024308536.1:p.Ser158LeufsTer9
NM_001172509.2:c.895del MANE Select	NP_001165980.1:p.Ser299LeufsTer9
NM_015265.4:c.895del	NP_056080.1:p.Ser299LeufsTer9