Canonical Allele Identifier: CA10602834

Gene: SATB2

Linked Data

• ClinVar Variation Id: 280687
• ClinVar RCV Id: RCV000307104 ; RCV000763469
• dbSNP Id: rs886041847
• MyVariant Identifiers: chr2:g.200193522G>A (hg19) ; chr2:g.199328799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199328799G>A , CM000664.2:g.199328799G>A	GRCh38
NC_000002.11:g.200193522G>A , CM000664.1:g.200193522G>A	GRCh37
NC_000002.10:g.199901767G>A	NCBI36
NG_016976.1:g.147468C>T
NG_016976.2:g.147468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.931C>T	ENSP00000388581.1:p.Arg311Ter
ENST00000700191.1:c.931C>T	ENSP00000514853.1:p.Arg311Ter
ENST00000700192.1:n.235C>T
ENST00000700193.1:c.1285C>T	ENSP00000514854.1:p.Arg429Ter
ENST00000700207.1:n.193C>T
ENST00000700208.1:c.347-56127C>T	ENSP00000514860.1:n.347-56127C>T
ENST00000700209.1:n.230C>T
ENST00000700210.1:c.939C>T
ENST00000417098.6:c.1285C>T MANE Select	ENSP00000401112.1:p.Arg429Ter
ENST00000260926.9:c.1285C>T	ENSP00000260926.5:p.Arg429Ter
ENST00000417098.5:c.1285C>T	ENSP00000401112.1:p.Arg429Ter
ENST00000428695.5:c.931C>T	ENSP00000388581.1:p.Arg311Ter
ENST00000443023.5:c.1108C>T	ENSP00000388764.1:p.Arg370Ter
ENST00000457245.5:c.1285C>T	ENSP00000405420.1:p.Arg429Ter
ENST00000473517.1:n.237C>T
ENST00000614512.4:c.931C>T	ENSP00000483287.1:p.Arg311Ter
NM_001172509.1:c.1285C>T	NP_001165980.1:p.Arg429Ter
NM_001172517.1:c.1285C>T	NP_001165988.1:p.Arg429Ter
NM_015265.3:c.1285C>T	NP_056080.1:p.Arg429Ter
XM_005246396.1:c.1111C>T	XP_005246453.1:p.Arg371Ter
XM_006712372.1:c.1285C>T	XP_006712435.1:p.Arg429Ter
XM_011510840.1:c.1285C>T	XP_011509142.1:p.Arg429Ter
XM_005246396.3:c.1111C>T	XP_005246453.1:p.Arg371Ter
XM_011510840.3:c.1285C>T	XP_011509142.1:p.Arg429Ter
XM_017003656.1:c.1111C>T	XP_016859145.1:p.Arg371Ter
XM_024452767.1:c.862C>T	XP_024308535.1:p.Arg288Ter
XM_024452768.1:c.862C>T	XP_024308536.1:p.Arg288Ter
NM_001172509.2:c.1285C>T MANE Select	NP_001165980.1:p.Arg429Ter
NM_015265.4:c.1285C>T	NP_056080.1:p.Arg429Ter