Canonical Allele Identifier: CA16617409
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422062
dbSNP Id: rs1064795530

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199308804C>T , CM000664.2:g.199308804C>T GRCh38
NC_000002.11:g.200173527C>T , CM000664.1:g.200173527C>T GRCh37
NC_000002.10:g.199881772C>T NCBI36
NG_016976.1:g.167463G>A
NG_016976.2:g.167463G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000428695.6:c.1342G>A ENSP00000388581.1:p.Glu448Lys
ENST00000700191.1:c.1342G>A ENSP00000514853.1:p.Glu448Lys
ENST00000700192.1:n.785G>A
ENST00000700193.1:c.1696G>A ENSP00000514854.1:p.Glu566Lys
ENST00000700207.1:n.604G>A
ENST00000700208.1:c.347-36132G>A ENSP00000514860.1:n.347-36132G>A
ENST00000700209.1:n.641G>A
ENST00000700210.1:c.1350G>A
ENST00000417098.6:c.1696G>A MANE Select ENSP00000401112.1:p.Glu566Lys
ENST00000260926.9:c.1696G>A ENSP00000260926.5:p.Glu566Lys
ENST00000417098.5:c.1696G>A ENSP00000401112.1:p.Glu566Lys
ENST00000428695.5:c.1342G>A ENSP00000388581.1:p.Glu448Lys
ENST00000443023.5:c.1519G>A ENSP00000388764.1:p.Glu507Lys
ENST00000457245.5:c.1696G>A ENSP00000405420.1:p.Glu566Lys
ENST00000614512.4:c.1342G>A ENSP00000483287.1:p.Glu448Lys
NM_001172509.1:c.1696G>A NP_001165980.1:p.Glu566Lys
NM_001172517.1:c.1696G>A NP_001165988.1:p.Glu566Lys
NM_015265.3:c.1696G>A NP_056080.1:p.Glu566Lys
XM_005246396.1:c.1522G>A XP_005246453.1:p.Glu508Lys
XM_006712372.1:c.1696G>A XP_006712435.1:p.Glu566Lys
XM_011510840.1:c.1696G>A XP_011509142.1:p.Glu566Lys
XM_005246396.3:c.1522G>A XP_005246453.1:p.Glu508Lys
XM_011510840.3:c.1696G>A XP_011509142.1:p.Glu566Lys
XM_017003656.1:c.1522G>A XP_016859145.1:p.Glu508Lys
XM_024452767.1:c.1273G>A XP_024308535.1:p.Glu425Lys
XM_024452768.1:c.1273G>A XP_024308536.1:p.Glu425Lys
NM_001172509.2:c.1696G>A MANE Select NP_001165980.1:p.Glu566Lys
NM_015265.4:c.1696G>A NP_056080.1:p.Glu566Lys