Canonical Allele Identifier: CA430835208
Gene: SATB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.200213568T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199348845T>G , CM000664.2:g.199348845T>G GRCh38
NC_000002.11:g.200213568T>G , CM000664.1:g.200213568T>G GRCh37
NC_000002.10:g.199921813T>G NCBI36
NG_016976.1:g.127422A>C
NG_016976.2:g.127422A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000428695.6:c.675A>C ENSP00000388581.1:p.Pro225=
ENST00000700191.1:c.675A>C ENSP00000514853.1:p.Pro225=
ENST00000700193.1:c.1029A>C ENSP00000514854.1:p.Pro343=
ENST00000700208.1:c.347-76173A>C ENSP00000514860.1:n.347-76173A>C
ENST00000700210.1:c.683A>C
ENST00000417098.6:c.1029A>C MANE Select ENSP00000401112.1:p.Pro343=
ENST00000260926.9:c.1029A>C ENSP00000260926.5:p.Pro343=
ENST00000417098.5:c.1029A>C ENSP00000401112.1:p.Pro343=
ENST00000428695.5:c.675A>C ENSP00000388581.1:p.Pro225=
ENST00000443023.5:c.852A>C ENSP00000388764.1:p.Pro284=
ENST00000457245.5:c.1029A>C ENSP00000405420.1:p.Pro343=
ENST00000483346.2:n.668A>C
ENST00000614512.4:c.675A>C ENSP00000483287.1:p.Pro225=
NM_001172509.1:c.1029A>C NP_001165980.1:p.Pro343=
NM_001172517.1:c.1029A>C NP_001165988.1:p.Pro343=
NM_015265.3:c.1029A>C NP_056080.1:p.Pro343=
XM_005246396.1:c.855A>C XP_005246453.1:p.Pro285=
XM_006712372.1:c.1029A>C XP_006712435.1:p.Pro343=
XM_011510840.1:c.1029A>C XP_011509142.1:p.Pro343=
XM_005246396.3:c.855A>C XP_005246453.1:p.Pro285=
XM_011510840.3:c.1029A>C XP_011509142.1:p.Pro343=
XM_017003656.1:c.855A>C XP_016859145.1:p.Pro285=
XM_024452767.1:c.606A>C XP_024308535.1:p.Pro202=
XM_024452768.1:c.606A>C XP_024308536.1:p.Pro202=
NM_001172509.2:c.1029A>C MANE Select NP_001165980.1:p.Pro343=
NM_015265.4:c.1029A>C NP_056080.1:p.Pro343=