Canonical Allele Identifier: CA350387534

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213578A>G (hg19) ; chr2:g.199348855A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348855A>G , CM000664.2:g.199348855A>G	GRCh38
NC_000002.11:g.200213578A>G , CM000664.1:g.200213578A>G	GRCh37
NC_000002.10:g.199921823A>G	NCBI36
NG_016976.1:g.127412T>C
NG_016976.2:g.127412T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.665T>C	ENSP00000388581.1:p.Leu222Pro
ENST00000700191.1:c.665T>C	ENSP00000514853.1:p.Leu222Pro
ENST00000700193.1:c.1019T>C	ENSP00000514854.1:p.Leu340Pro
ENST00000700208.1:c.347-76183T>C	ENSP00000514860.1:n.347-76183T>C
ENST00000700210.1:c.673T>C
ENST00000417098.6:c.1019T>C MANE Select	ENSP00000401112.1:p.Leu340Pro
ENST00000260926.9:c.1019T>C	ENSP00000260926.5:p.Leu340Pro
ENST00000417098.5:c.1019T>C	ENSP00000401112.1:p.Leu340Pro
ENST00000428695.5:c.665T>C	ENSP00000388581.1:p.Leu222Pro
ENST00000443023.5:c.842T>C	ENSP00000388764.1:p.Leu281Pro
ENST00000457245.5:c.1019T>C	ENSP00000405420.1:p.Leu340Pro
ENST00000483346.2:n.658T>C
ENST00000614512.4:c.665T>C	ENSP00000483287.1:p.Leu222Pro
NM_001172509.1:c.1019T>C	NP_001165980.1:p.Leu340Pro
NM_001172517.1:c.1019T>C	NP_001165988.1:p.Leu340Pro
NM_015265.3:c.1019T>C	NP_056080.1:p.Leu340Pro
XM_005246396.1:c.845T>C	XP_005246453.1:p.Leu282Pro
XM_006712372.1:c.1019T>C	XP_006712435.1:p.Leu340Pro
XM_011510840.1:c.1019T>C	XP_011509142.1:p.Leu340Pro
XM_005246396.3:c.845T>C	XP_005246453.1:p.Leu282Pro
XM_011510840.3:c.1019T>C	XP_011509142.1:p.Leu340Pro
XM_017003656.1:c.845T>C	XP_016859145.1:p.Leu282Pro
XM_024452767.1:c.596T>C	XP_024308535.1:p.Leu199Pro
XM_024452768.1:c.596T>C	XP_024308536.1:p.Leu199Pro
NM_001172509.2:c.1019T>C MANE Select	NP_001165980.1:p.Leu340Pro
NM_015265.4:c.1019T>C	NP_056080.1:p.Leu340Pro