Canonical Allele Identifier: CA350387057

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213444C>T (hg19) ; chr2:g.199348721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348721C>T , CM000664.2:g.199348721C>T	GRCh38
NC_000002.11:g.200213444C>T , CM000664.1:g.200213444C>T	GRCh37
NC_000002.10:g.199921689C>T	NCBI36
NG_016976.1:g.127546G>A
NG_016976.2:g.127546G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000428695.6:c.799G>A	ENSP00000388581.1:p.Val267Met
ENST00000700191.1:c.799G>A	ENSP00000514853.1:p.Val267Met
ENST00000700193.1:c.1153G>A	ENSP00000514854.1:p.Val385Met
ENST00000700208.1:c.347-76049G>A	ENSP00000514860.1:n.347-76049G>A
ENST00000700210.1:c.807G>A
ENST00000417098.6:c.1153G>A MANE Select	ENSP00000401112.1:p.Val385Met
ENST00000260926.9:c.1153G>A	ENSP00000260926.5:p.Val385Met
ENST00000417098.5:c.1153G>A	ENSP00000401112.1:p.Val385Met
ENST00000428695.5:c.799G>A	ENSP00000388581.1:p.Val267Met
ENST00000443023.5:c.976G>A	ENSP00000388764.1:p.Val326Met
ENST00000457245.5:c.1153G>A	ENSP00000405420.1:p.Val385Met
ENST00000483346.2:n.792G>A
ENST00000614512.4:c.799G>A	ENSP00000483287.1:p.Val267Met
NM_001172509.1:c.1153G>A	NP_001165980.1:p.Val385Met
NM_001172517.1:c.1153G>A	NP_001165988.1:p.Val385Met
NM_015265.3:c.1153G>A	NP_056080.1:p.Val385Met
XM_005246396.1:c.979G>A	XP_005246453.1:p.Val327Met
XM_006712372.1:c.1153G>A	XP_006712435.1:p.Val385Met
XM_011510840.1:c.1153G>A	XP_011509142.1:p.Val385Met
XM_005246396.3:c.979G>A	XP_005246453.1:p.Val327Met
XM_011510840.3:c.1153G>A	XP_011509142.1:p.Val385Met
XM_017003656.1:c.979G>A	XP_016859145.1:p.Val327Met
XM_024452767.1:c.730G>A	XP_024308535.1:p.Val244Met
XM_024452768.1:c.730G>A	XP_024308536.1:p.Val244Met
NM_001172509.2:c.1153G>A MANE Select	NP_001165980.1:p.Val385Met
NM_015265.4:c.1153G>A	NP_056080.1:p.Val385Met