Canonical Allele Identifier: CA2573051830

Gene: SATB2

Linked Data

• ClinVar Variation Id: 1315225
• ClinVar RCV Id: RCV001774475
• dbSNP Id: rs2105822995

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348808_199348813del , CM000664.2:g.199348808_199348813del	GRCh38
NC_000002.11:g.200213531_200213536del , CM000664.1:g.200213531_200213536del	GRCh37
NC_000002.10:g.199921776_199921781del	NCBI36
NG_016976.1:g.127455_127460del
NG_016976.2:g.127455_127460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.708_713del	ENSP00000388581.1:p.Asn237_Ser238del
ENST00000700191.1:c.708_713del	ENSP00000514853.1:p.Asn237_Ser238del
ENST00000700193.1:c.1062_1067del	ENSP00000514854.1:p.Asn355_Ser356del
ENST00000700208.1:c.347-76140_347-76135del	ENSP00000514860.1:n.347-76140_347-76135del
ENST00000700210.1:c.716_721del
ENST00000417098.6:c.1062_1067del MANE Select	ENSP00000401112.1:p.Asn355_Ser356del
ENST00000260926.9:c.1062_1067del	ENSP00000260926.5:p.Asn355_Ser356del
ENST00000417098.5:c.1062_1067del	ENSP00000401112.1:p.Asn355_Ser356del
ENST00000428695.5:c.708_713del	ENSP00000388581.1:p.Asn237_Ser238del
ENST00000443023.5:c.885_890del	ENSP00000388764.1:p.Asn296_Ser297del
ENST00000457245.5:c.1062_1067del	ENSP00000405420.1:p.Asn355_Ser356del
ENST00000483346.2:n.701_706del
ENST00000614512.4:c.708_713del	ENSP00000483287.1:p.Asn237_Ser238del
NM_001172509.1:c.1062_1067del	NP_001165980.1:p.Asn355_Ser356del
NM_001172517.1:c.1062_1067del	NP_001165988.1:p.Asn355_Ser356del
NM_015265.3:c.1062_1067del	NP_056080.1:p.Asn355_Ser356del
XM_005246396.1:c.888_893del	XP_005246453.1:p.Asn297_Ser298del
XM_006712372.1:c.1062_1067del	XP_006712435.1:p.Asn355_Ser356del
XM_011510840.1:c.1062_1067del	XP_011509142.1:p.Asn355_Ser356del
XM_005246396.3:c.888_893del	XP_005246453.1:p.Asn297_Ser298del
XM_011510840.3:c.1062_1067del	XP_011509142.1:p.Asn355_Ser356del
XM_017003656.1:c.888_893del	XP_016859145.1:p.Asn297_Ser298del
XM_024452767.1:c.639_644del	XP_024308535.1:p.Asn214_Ser215del
XM_024452768.1:c.639_644del	XP_024308536.1:p.Asn214_Ser215del
NM_001172509.2:c.1062_1067del MANE Select	NP_001165980.1:p.Asn355_Ser356del
NM_015265.4:c.1062_1067del	NP_056080.1:p.Asn355_Ser356del