Canonical Allele Identifier: CA16604015
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 391717
ClinVar RCV Id: RCV000422578
dbSNP Id: rs1057524205

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199323864T>A , CM000664.2:g.199323864T>A GRCh38
NC_000002.11:g.200188587T>A , CM000664.1:g.200188587T>A GRCh37
NC_000002.10:g.199896832T>A NCBI36
NG_016976.1:g.152403A>T
NG_016976.2:g.152403A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000428695.6:c.1127A>T ENSP00000388581.1:p.Glu376Val
ENST00000700191.1:c.1127A>T ENSP00000514853.1:p.Glu376Val
ENST00000700192.1:n.570A>T
ENST00000700193.1:c.1481A>T ENSP00000514854.1:p.Glu494Val
ENST00000700207.1:n.389A>T
ENST00000700208.1:c.347-51192A>T ENSP00000514860.1:n.347-51192A>T
ENST00000700209.1:n.426A>T
ENST00000700210.1:c.1135A>T
ENST00000417098.6:c.1481A>T MANE Select ENSP00000401112.1:p.Glu494Val
ENST00000260926.9:c.1481A>T ENSP00000260926.5:p.Glu494Val
ENST00000417098.5:c.1481A>T ENSP00000401112.1:p.Glu494Val
ENST00000428695.5:c.1127A>T ENSP00000388581.1:p.Glu376Val
ENST00000443023.5:c.1304A>T ENSP00000388764.1:p.Glu435Val
ENST00000457245.5:c.1481A>T ENSP00000405420.1:p.Glu494Val
ENST00000473517.1:n.433A>T
ENST00000614512.4:c.1127A>T ENSP00000483287.1:p.Glu376Val
NM_001172509.1:c.1481A>T NP_001165980.1:p.Glu494Val
NM_001172517.1:c.1481A>T NP_001165988.1:p.Glu494Val
NM_015265.3:c.1481A>T NP_056080.1:p.Glu494Val
XM_005246396.1:c.1307A>T XP_005246453.1:p.Glu436Val
XM_006712372.1:c.1481A>T XP_006712435.1:p.Glu494Val
XM_011510840.1:c.1481A>T XP_011509142.1:p.Glu494Val
XM_005246396.3:c.1307A>T XP_005246453.1:p.Glu436Val
XM_011510840.3:c.1481A>T XP_011509142.1:p.Glu494Val
XM_017003656.1:c.1307A>T XP_016859145.1:p.Glu436Val
XM_024452767.1:c.1058A>T XP_024308535.1:p.Glu353Val
XM_024452768.1:c.1058A>T XP_024308536.1:p.Glu353Val
NM_001172509.2:c.1481A>T MANE Select NP_001165980.1:p.Glu494Val
NM_015265.4:c.1481A>T NP_056080.1:p.Glu494Val