Canonical Allele Identifier: CA350388493
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3157934
ClinVar RCV Id: RCV004450255
dbSNP Id: rs1392839872

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199455941G>A , CM000664.2:g.199455941G>A GRCh38
NC_000002.11:g.200320664G>A , CM000664.1:g.200320664G>A GRCh37
NC_000002.10:g.200028909G>A NCBI36
NG_016976.1:g.20326C>T
NG_016976.2:g.20326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000428695.6:c.97C>T ENSP00000388581.1:p.Arg33Trp
ENST00000700191.1:c.97C>T ENSP00000514853.1:p.Arg33Trp
ENST00000700193.1:c.97C>T ENSP00000514854.1:p.Arg33Trp
ENST00000700194.1:n.355C>T
ENST00000700208.1:c.97C>T ENSP00000514860.1:p.Arg33Trp
ENST00000417098.6:c.97C>T MANE Select ENSP00000401112.1:p.Arg33Trp
ENST00000260926.9:c.97C>T ENSP00000260926.5:p.Arg33Trp
ENST00000417098.5:c.97C>T ENSP00000401112.1:p.Arg33Trp
ENST00000428695.5:c.97C>T ENSP00000388581.1:p.Arg33Trp
ENST00000440919.1:c.97C>T ENSP00000415610.1:p.Arg33Trp
ENST00000443023.5:c.97C>T ENSP00000388764.1:p.Arg33Trp
ENST00000457245.5:c.97C>T ENSP00000405420.1:p.Arg33Trp
ENST00000614512.4:c.97C>T ENSP00000483287.1:p.Arg33Trp
NM_001172509.1:c.97C>T NP_001165980.1:p.Arg33Trp
NM_001172517.1:c.97C>T NP_001165988.1:p.Arg33Trp
NM_015265.3:c.97C>T NP_056080.1:p.Arg33Trp
XM_005246396.1:c.-6+4511C>T XP_005246453.1:n.-6+4511C>T
XM_006712372.1:c.97C>T XP_006712435.1:p.Arg33Trp
XM_011510840.1:c.97C>T XP_011509142.1:p.Arg33Trp
NR_134967.1:n.914C>T
XM_005246396.3:c.-6+4511C>T XP_005246453.1:n.-6+4511C>T
XM_011510840.3:c.97C>T XP_011509142.1:p.Arg33Trp
XM_017003656.1:c.-6+4511C>T XP_016859145.1:n.-6+4511C>T
NM_001172509.2:c.97C>T MANE Select NP_001165980.1:p.Arg33Trp
NM_015265.4:c.97C>T NP_056080.1:p.Arg33Trp
NR_134967.2:n.757C>T