Canonical Allele Identifier: CA350387856

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213682T>A (hg19) ; chr2:g.199348959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348959T>A , CM000664.2:g.199348959T>A	GRCh38
NC_000002.11:g.200213682T>A , CM000664.1:g.200213682T>A	GRCh37
NC_000002.10:g.199921927T>A	NCBI36
NG_016976.1:g.127308A>T
NG_016976.2:g.127308A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.561A>T	ENSP00000388581.1:p.Gln187His
ENST00000700191.1:c.561A>T	ENSP00000514853.1:p.Gln187His
ENST00000700193.1:c.915A>T	ENSP00000514854.1:p.Gln305His
ENST00000700208.1:c.347-76287A>T	ENSP00000514860.1:n.347-76287A>T
ENST00000700210.1:c.569A>T
ENST00000417098.6:c.915A>T MANE Select	ENSP00000401112.1:p.Gln305His
ENST00000260926.9:c.915A>T	ENSP00000260926.5:p.Gln305His
ENST00000417098.5:c.915A>T	ENSP00000401112.1:p.Gln305His
ENST00000428695.5:c.561A>T	ENSP00000388581.1:p.Gln187His
ENST00000443023.5:c.738A>T	ENSP00000388764.1:p.Gln246His
ENST00000457245.5:c.915A>T	ENSP00000405420.1:p.Gln305His
ENST00000483346.2:n.554A>T
ENST00000614512.4:c.561A>T	ENSP00000483287.1:p.Gln187His
NM_001172509.1:c.915A>T	NP_001165980.1:p.Gln305His
NM_001172517.1:c.915A>T	NP_001165988.1:p.Gln305His
NM_015265.3:c.915A>T	NP_056080.1:p.Gln305His
XM_005246396.1:c.741A>T	XP_005246453.1:p.Gln247His
XM_006712372.1:c.915A>T	XP_006712435.1:p.Gln305His
XM_011510840.1:c.915A>T	XP_011509142.1:p.Gln305His
XM_005246396.3:c.741A>T	XP_005246453.1:p.Gln247His
XM_011510840.3:c.915A>T	XP_011509142.1:p.Gln305His
XM_017003656.1:c.741A>T	XP_016859145.1:p.Gln247His
XM_024452767.1:c.492A>T	XP_024308535.1:p.Gln164His
XM_024452768.1:c.492A>T	XP_024308536.1:p.Gln164His
NM_001172509.2:c.915A>T MANE Select	NP_001165980.1:p.Gln305His
NM_015265.4:c.915A>T	NP_056080.1:p.Gln305His