Canonical Allele Identifier: CA64293424

Gene: SATB2

Linked Data

• ClinVar Variation Id: 1216485
• ClinVar RCV Id: RCV001586866 ; RCV002579459
• dbSNP Id: rs937799874
• gnomAD v4: 2-199455992-G-T
• MyVariant Identifiers: chr2:g.200320715G>T (hg19) ; chr2:g.199455992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199455992G>T , CM000664.2:g.199455992G>T	GRCh38
NC_000002.11:g.200320715G>T , CM000664.1:g.200320715G>T	GRCh37
NC_000002.10:g.200028960G>T	NCBI36
NG_016976.1:g.20275C>A
NG_016976.2:g.20275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.46C>A	ENSP00000388581.1:p.Arg16=
ENST00000700191.1:c.46C>A	ENSP00000514853.1:p.Arg16=
ENST00000700193.1:c.46C>A	ENSP00000514854.1:p.Arg16=
ENST00000700194.1:n.304C>A
ENST00000700208.1:c.46C>A	ENSP00000514860.1:p.Arg16=
ENST00000417098.6:c.46C>A MANE Select	ENSP00000401112.1:p.Arg16=
ENST00000260926.9:c.46C>A	ENSP00000260926.5:p.Arg16=
ENST00000417098.5:c.46C>A	ENSP00000401112.1:p.Arg16=
ENST00000428695.5:c.46C>A	ENSP00000388581.1:p.Arg16=
ENST00000440919.1:c.46C>A	ENSP00000415610.1:p.Arg16=
ENST00000443023.5:c.46C>A	ENSP00000388764.1:p.Arg16=
ENST00000457245.5:c.46C>A	ENSP00000405420.1:p.Arg16=
ENST00000614512.4:c.46C>A	ENSP00000483287.1:p.Arg16=
NM_001172509.1:c.46C>A	NP_001165980.1:p.Arg16=
NM_001172517.1:c.46C>A	NP_001165988.1:p.Arg16=
NM_015265.3:c.46C>A	NP_056080.1:p.Arg16=
XM_005246396.1:c.-6+4460C>A	XP_005246453.1:n.-6+4460C>A
XM_006712372.1:c.46C>A	XP_006712435.1:p.Arg16=
XM_011510840.1:c.46C>A	XP_011509142.1:p.Arg16=
NR_134967.1:n.863C>A
XM_005246396.3:c.-6+4460C>A	XP_005246453.1:n.-6+4460C>A
XM_011510840.3:c.46C>A	XP_011509142.1:p.Arg16=
XM_017003656.1:c.-6+4460C>A	XP_016859145.1:n.-6+4460C>A
NM_001172509.2:c.46C>A MANE Select	NP_001165980.1:p.Arg16=
NM_015265.4:c.46C>A	NP_056080.1:p.Arg16=
NR_134967.2:n.706C>A