Canonical Allele Identifier: CA1320151688
Gene: SATB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199348957A= , CM000664.2:g.199348957A= GRCh38
NC_000002.11:g.200213680A= , CM000664.1:g.200213680A= GRCh37
NC_000002.10:g.199921925A= NCBI36
NG_016976.1:g.127310T=
NG_016976.2:g.127310T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000428695.6:c.563T= ENSP00000388581.1:p.Leu188=
ENST00000700191.1:c.563T= ENSP00000514853.1:p.Leu188=
ENST00000700193.1:c.917T= ENSP00000514854.1:p.Leu306=
ENST00000700208.1:c.347-76285T= ENSP00000514860.1:n.347-76285T=
ENST00000700210.1:c.571T=
ENST00000417098.6:c.917T= MANE Select ENSP00000401112.1:p.Leu306=
ENST00000260926.9:c.917T= ENSP00000260926.5:p.Leu306=
ENST00000417098.5:c.917T= ENSP00000401112.1:p.Leu306=
ENST00000428695.5:c.563T= ENSP00000388581.1:p.Leu188=
ENST00000443023.5:c.740T= ENSP00000388764.1:p.Leu247=
ENST00000457245.5:c.917T= ENSP00000405420.1:p.Leu306=
ENST00000483346.2:n.556T=
ENST00000614512.4:c.563T= ENSP00000483287.1:p.Leu188=
NM_001172509.1:c.917T= NP_001165980.1:p.Leu306=
NM_001172517.1:c.917T= NP_001165988.1:p.Leu306=
NM_015265.3:c.917T= NP_056080.1:p.Leu306=
XM_005246396.1:c.743T= XP_005246453.1:p.Leu248=
XM_006712372.1:c.917T= XP_006712435.1:p.Leu306=
XM_011510840.1:c.917T= XP_011509142.1:p.Leu306=
XM_005246396.3:c.743T= XP_005246453.1:p.Leu248=
XM_011510840.3:c.917T= XP_011509142.1:p.Leu306=
XM_017003656.1:c.743T= XP_016859145.1:p.Leu248=
XM_024452767.1:c.494T= XP_024308535.1:p.Leu165=
XM_024452768.1:c.494T= XP_024308536.1:p.Leu165=
NM_001172509.2:c.917T= MANE Select NP_001165980.1:p.Leu306=
NM_015265.4:c.917T= NP_056080.1:p.Leu306=