Canonical Allele Identifier: CA11343703
Gene: SATB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199425636A>G , CM000664.2:g.199425636A>G GRCh38
NC_000002.11:g.200290359A>G , CM000664.1:g.200290359A>G GRCh37
NC_000002.10:g.199998604A>G NCBI36
NG_016976.1:g.50631T>C
NG_016976.2:g.50631T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000428695.6:c.346+7702T>C ENSP00000388581.1:n.346+7702T>C
ENST00000700191.1:c.346+7702T>C ENSP00000514853.1:n.346+7702T>C
ENST00000700193.1:c.346+7702T>C ENSP00000514854.1:n.346+7702T>C
ENST00000700194.1:n.604+7702T>C
ENST00000700208.1:c.346+7702T>C ENSP00000514860.1:n.346+7702T>C
ENST00000417098.6:c.346+7702T>C MANE Select ENSP00000401112.1:n.346+7702T>C
ENST00000260926.9:c.346+7702T>C ENSP00000260926.5:n.346+7702T>C
ENST00000417098.5:c.346+7702T>C ENSP00000401112.1:n.346+7702T>C
ENST00000428695.5:c.346+7702T>C ENSP00000388581.1:n.346+7702T>C
ENST00000440919.1:c.346+7702T>C ENSP00000415610.1:n.346+7702T>C
ENST00000443023.5:c.169+30233T>C ENSP00000388764.1:n.169+30233T>C
ENST00000457245.5:c.346+7702T>C ENSP00000405420.1:n.346+7702T>C
ENST00000614512.4:c.346+7702T>C ENSP00000483287.1:n.346+7702T>C
NM_001172509.1:c.346+7702T>C NP_001165980.1:n.346+7702T>C
NM_001172517.1:c.346+7702T>C NP_001165988.1:n.346+7702T>C
NM_015265.3:c.346+7702T>C NP_056080.1:n.346+7702T>C
XM_005246396.1:c.172+7702T>C XP_005246453.1:n.172+7702T>C
XM_006712372.1:c.346+7702T>C XP_006712435.1:n.346+7702T>C
XM_011510840.1:c.346+7702T>C XP_011509142.1:n.346+7702T>C
NR_134967.1:n.1163+7702T>C
XM_005246396.3:c.172+7702T>C XP_005246453.1:n.172+7702T>C
XM_011510840.3:c.346+7702T>C XP_011509142.1:n.346+7702T>C
XM_017003656.1:c.172+7702T>C XP_016859145.1:n.172+7702T>C
XM_024452767.1:c.-287-5740T>C XP_024308535.1:n.-287-5740T>C
NM_001172509.2:c.346+7702T>C MANE Select NP_001165980.1:n.346+7702T>C
NM_015265.4:c.346+7702T>C NP_056080.1:n.346+7702T>C
NR_134967.2:n.1006+7702T>C