Canonical Allele Identifier: CA350387778

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213648T>G (hg19) ; chr2:g.199348925T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348925T>G , CM000664.2:g.199348925T>G	GRCh38
NC_000002.11:g.200213648T>G , CM000664.1:g.200213648T>G	GRCh37
NC_000002.10:g.199921893T>G	NCBI36
NG_016976.1:g.127342A>C
NG_016976.2:g.127342A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.595A>C	ENSP00000388581.1:p.Ile199Leu
ENST00000700191.1:c.595A>C	ENSP00000514853.1:p.Ile199Leu
ENST00000700193.1:c.949A>C	ENSP00000514854.1:p.Ile317Leu
ENST00000700208.1:c.347-76253A>C	ENSP00000514860.1:n.347-76253A>C
ENST00000700210.1:c.603A>C
ENST00000417098.6:c.949A>C MANE Select	ENSP00000401112.1:p.Ile317Leu
ENST00000260926.9:c.949A>C	ENSP00000260926.5:p.Ile317Leu
ENST00000417098.5:c.949A>C	ENSP00000401112.1:p.Ile317Leu
ENST00000428695.5:c.595A>C	ENSP00000388581.1:p.Ile199Leu
ENST00000443023.5:c.772A>C	ENSP00000388764.1:p.Ile258Leu
ENST00000457245.5:c.949A>C	ENSP00000405420.1:p.Ile317Leu
ENST00000483346.2:n.588A>C
ENST00000614512.4:c.595A>C	ENSP00000483287.1:p.Ile199Leu
NM_001172509.1:c.949A>C	NP_001165980.1:p.Ile317Leu
NM_001172517.1:c.949A>C	NP_001165988.1:p.Ile317Leu
NM_015265.3:c.949A>C	NP_056080.1:p.Ile317Leu
XM_005246396.1:c.775A>C	XP_005246453.1:p.Ile259Leu
XM_006712372.1:c.949A>C	XP_006712435.1:p.Ile317Leu
XM_011510840.1:c.949A>C	XP_011509142.1:p.Ile317Leu
XM_005246396.3:c.775A>C	XP_005246453.1:p.Ile259Leu
XM_011510840.3:c.949A>C	XP_011509142.1:p.Ile317Leu
XM_017003656.1:c.775A>C	XP_016859145.1:p.Ile259Leu
XM_024452767.1:c.526A>C	XP_024308535.1:p.Ile176Leu
XM_024452768.1:c.526A>C	XP_024308536.1:p.Ile176Leu
NM_001172509.2:c.949A>C MANE Select	NP_001165980.1:p.Ile317Leu
NM_015265.4:c.949A>C	NP_056080.1:p.Ile317Leu