Canonical Allele Identifier: CA430780445
Gene: SATB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.200193589T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199328866T>C , CM000664.2:g.199328866T>C GRCh38
NC_000002.11:g.200193589T>C , CM000664.1:g.200193589T>C GRCh37
NC_000002.10:g.199901834T>C NCBI36
NG_016976.1:g.147401A>G
NG_016976.2:g.147401A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000428695.6:c.864A>G ENSP00000388581.1:p.Thr288=
ENST00000700191.1:c.864A>G ENSP00000514853.1:p.Thr288=
ENST00000700192.1:n.168A>G
ENST00000700193.1:c.1218A>G ENSP00000514854.1:p.Thr406=
ENST00000700207.1:n.126A>G
ENST00000700208.1:c.347-56194A>G ENSP00000514860.1:n.347-56194A>G
ENST00000700209.1:n.163A>G
ENST00000700210.1:c.872A>G
ENST00000417098.6:c.1218A>G MANE Select ENSP00000401112.1:p.Thr406=
ENST00000260926.9:c.1218A>G ENSP00000260926.5:p.Thr406=
ENST00000417098.5:c.1218A>G ENSP00000401112.1:p.Thr406=
ENST00000428695.5:c.864A>G ENSP00000388581.1:p.Thr288=
ENST00000443023.5:c.1041A>G ENSP00000388764.1:p.Thr347=
ENST00000457245.5:c.1218A>G ENSP00000405420.1:p.Thr406=
ENST00000473517.1:n.170A>G
ENST00000614512.4:c.864A>G ENSP00000483287.1:p.Thr288=
NM_001172509.1:c.1218A>G NP_001165980.1:p.Thr406=
NM_001172517.1:c.1218A>G NP_001165988.1:p.Thr406=
NM_015265.3:c.1218A>G NP_056080.1:p.Thr406=
XM_005246396.1:c.1044A>G XP_005246453.1:p.Thr348=
XM_006712372.1:c.1218A>G XP_006712435.1:p.Thr406=
XM_011510840.1:c.1218A>G XP_011509142.1:p.Thr406=
XM_005246396.3:c.1044A>G XP_005246453.1:p.Thr348=
XM_011510840.3:c.1218A>G XP_011509142.1:p.Thr406=
XM_017003656.1:c.1044A>G XP_016859145.1:p.Thr348=
XM_024452767.1:c.795A>G XP_024308535.1:p.Thr265=
XM_024452768.1:c.795A>G XP_024308536.1:p.Thr265=
NM_001172509.2:c.1218A>G MANE Select NP_001165980.1:p.Thr406=
NM_015265.4:c.1218A>G NP_056080.1:p.Thr406=