Canonical Allele Identifier: CA350386146

Gene: SATB2

Linked Data

• ClinVar Variation Id: 522269
• ClinVar RCV Id: RCV000625170 ; RCV000680089 ; RCV001003958 ; RCV001564846 ; RCV002317378 ; RCV003389057
• dbSNP Id: rs1553547838
• MyVariant Identifiers: chr2:g.200193432G>A (hg19) ; chr2:g.199328709G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199328709G>A , CM000664.2:g.199328709G>A	GRCh38
NC_000002.11:g.200193432G>A , CM000664.1:g.200193432G>A	GRCh37
NC_000002.10:g.199901677G>A	NCBI36
NG_016976.1:g.147558C>T
NG_016976.2:g.147558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.1021C>T	ENSP00000388581.1:p.Arg341Ter
ENST00000700191.1:c.1021C>T	ENSP00000514853.1:p.Arg341Ter
ENST00000700192.1:n.325C>T
ENST00000700193.1:c.1375C>T	ENSP00000514854.1:p.Arg459Ter
ENST00000700207.1:n.283C>T
ENST00000700208.1:c.347-56037C>T	ENSP00000514860.1:n.347-56037C>T
ENST00000700209.1:n.320C>T
ENST00000700210.1:c.1029C>T
ENST00000417098.6:c.1375C>T MANE Select	ENSP00000401112.1:p.Arg459Ter
ENST00000260926.9:c.1375C>T	ENSP00000260926.5:p.Arg459Ter
ENST00000417098.5:c.1375C>T	ENSP00000401112.1:p.Arg459Ter
ENST00000428695.5:c.1021C>T	ENSP00000388581.1:p.Arg341Ter
ENST00000443023.5:c.1198C>T	ENSP00000388764.1:p.Arg400Ter
ENST00000457245.5:c.1375C>T	ENSP00000405420.1:p.Arg459Ter
ENST00000473517.1:n.327C>T
ENST00000614512.4:c.1021C>T	ENSP00000483287.1:p.Arg341Ter
NM_001172509.1:c.1375C>T	NP_001165980.1:p.Arg459Ter
NM_001172517.1:c.1375C>T	NP_001165988.1:p.Arg459Ter
NM_015265.3:c.1375C>T	NP_056080.1:p.Arg459Ter
XM_005246396.1:c.1201C>T	XP_005246453.1:p.Arg401Ter
XM_006712372.1:c.1375C>T	XP_006712435.1:p.Arg459Ter
XM_011510840.1:c.1375C>T	XP_011509142.1:p.Arg459Ter
XM_005246396.3:c.1201C>T	XP_005246453.1:p.Arg401Ter
XM_011510840.3:c.1375C>T	XP_011509142.1:p.Arg459Ter
XM_017003656.1:c.1201C>T	XP_016859145.1:p.Arg401Ter
XM_024452767.1:c.952C>T	XP_024308535.1:p.Arg318Ter
XM_024452768.1:c.952C>T	XP_024308536.1:p.Arg318Ter
NM_001172509.2:c.1375C>T MANE Select	NP_001165980.1:p.Arg459Ter
NM_015265.4:c.1375C>T	NP_056080.1:p.Arg459Ter