Canonical Allele Identifier: CA350388448

Gene: SATB2

Linked Data

• gnomAD v4: 2-199455921-G-T
• MyVariant Identifiers: chr2:g.200320644G>T (hg19) ; chr2:g.199455921G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199455921G>T , CM000664.2:g.199455921G>T	GRCh38
NC_000002.11:g.200320644G>T , CM000664.1:g.200320644G>T	GRCh37
NC_000002.10:g.200028889G>T	NCBI36
NG_016976.1:g.20346C>A
NG_016976.2:g.20346C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.117C>A	ENSP00000388581.1:p.Ser39Arg
ENST00000700191.1:c.117C>A	ENSP00000514853.1:p.Ser39Arg
ENST00000700193.1:c.117C>A	ENSP00000514854.1:p.Ser39Arg
ENST00000700194.1:n.375C>A
ENST00000700208.1:c.117C>A	ENSP00000514860.1:p.Ser39Arg
ENST00000417098.6:c.117C>A MANE Select	ENSP00000401112.1:p.Ser39Arg
ENST00000260926.9:c.117C>A	ENSP00000260926.5:p.Ser39Arg
ENST00000417098.5:c.117C>A	ENSP00000401112.1:p.Ser39Arg
ENST00000428695.5:c.117C>A	ENSP00000388581.1:p.Ser39Arg
ENST00000440919.1:c.117C>A	ENSP00000415610.1:p.Ser39Arg
ENST00000443023.5:c.117C>A	ENSP00000388764.1:p.Ser39Arg
ENST00000457245.5:c.117C>A	ENSP00000405420.1:p.Ser39Arg
ENST00000614512.4:c.117C>A	ENSP00000483287.1:p.Ser39Arg
NM_001172509.1:c.117C>A	NP_001165980.1:p.Ser39Arg
NM_001172517.1:c.117C>A	NP_001165988.1:p.Ser39Arg
NM_015265.3:c.117C>A	NP_056080.1:p.Ser39Arg
XM_005246396.1:c.-6+4531C>A	XP_005246453.1:n.-6+4531C>A
XM_006712372.1:c.117C>A	XP_006712435.1:p.Ser39Arg
XM_011510840.1:c.117C>A	XP_011509142.1:p.Ser39Arg
NR_134967.1:n.934C>A
XM_005246396.3:c.-6+4531C>A	XP_005246453.1:n.-6+4531C>A
XM_011510840.3:c.117C>A	XP_011509142.1:p.Ser39Arg
XM_017003656.1:c.-6+4531C>A	XP_016859145.1:n.-6+4531C>A
NM_001172509.2:c.117C>A MANE Select	NP_001165980.1:p.Ser39Arg
NM_015265.4:c.117C>A	NP_056080.1:p.Ser39Arg
NR_134967.2:n.777C>A