Canonical Allele Identifier: CA350387830

Gene: SATB2

Linked Data

• ClinVar Variation Id: 2828751
• ClinVar RCV Id: RCV003741927
• MyVariant Identifiers: chr2:g.200213670T>G (hg19) ; chr2:g.199348947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348947T>G , CM000664.2:g.199348947T>G	GRCh38
NC_000002.11:g.200213670T>G , CM000664.1:g.200213670T>G	GRCh37
NC_000002.10:g.199921915T>G	NCBI36
NG_016976.1:g.127320A>C
NG_016976.2:g.127320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.573A>C	ENSP00000388581.1:p.Gln191His
ENST00000700191.1:c.573A>C	ENSP00000514853.1:p.Gln191His
ENST00000700193.1:c.927A>C	ENSP00000514854.1:p.Gln309His
ENST00000700208.1:c.347-76275A>C	ENSP00000514860.1:n.347-76275A>C
ENST00000700210.1:c.581A>C
ENST00000417098.6:c.927A>C MANE Select	ENSP00000401112.1:p.Gln309His
ENST00000260926.9:c.927A>C	ENSP00000260926.5:p.Gln309His
ENST00000417098.5:c.927A>C	ENSP00000401112.1:p.Gln309His
ENST00000428695.5:c.573A>C	ENSP00000388581.1:p.Gln191His
ENST00000443023.5:c.750A>C	ENSP00000388764.1:p.Gln250His
ENST00000457245.5:c.927A>C	ENSP00000405420.1:p.Gln309His
ENST00000483346.2:n.566A>C
ENST00000614512.4:c.573A>C	ENSP00000483287.1:p.Gln191His
NM_001172509.1:c.927A>C	NP_001165980.1:p.Gln309His
NM_001172517.1:c.927A>C	NP_001165988.1:p.Gln309His
NM_015265.3:c.927A>C	NP_056080.1:p.Gln309His
XM_005246396.1:c.753A>C	XP_005246453.1:p.Gln251His
XM_006712372.1:c.927A>C	XP_006712435.1:p.Gln309His
XM_011510840.1:c.927A>C	XP_011509142.1:p.Gln309His
XM_005246396.3:c.753A>C	XP_005246453.1:p.Gln251His
XM_011510840.3:c.927A>C	XP_011509142.1:p.Gln309His
XM_017003656.1:c.753A>C	XP_016859145.1:p.Gln251His
XM_024452767.1:c.504A>C	XP_024308535.1:p.Gln168His
XM_024452768.1:c.504A>C	XP_024308536.1:p.Gln168His
NM_001172509.2:c.927A>C MANE Select	NP_001165980.1:p.Gln309His
NM_015265.4:c.927A>C	NP_056080.1:p.Gln309His