Canonical Allele Identifier: CA350386590
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427210
ClinVar RCV Id: RCV000489186
dbSNP Id: rs1085308028
MyVariant Identifiers: chr2:g.200193632C>T (hg19) chr2:g.199328909C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199328909C>T , CM000664.2:g.199328909C>T GRCh38
NC_000002.11:g.200193632C>T , CM000664.1:g.200193632C>T GRCh37
NC_000002.10:g.199901877C>T NCBI36
NG_016976.1:g.147358G>A
NG_016976.2:g.147358G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000428695.6:c.821G>A ENSP00000388581.1:p.Gly274Glu
ENST00000700191.1:c.821G>A ENSP00000514853.1:p.Gly274Glu
ENST00000700192.1:n.125G>A
ENST00000700193.1:c.1175G>A ENSP00000514854.1:p.Gly392Glu
ENST00000700207.1:n.83G>A
ENST00000700208.1:c.347-56237G>A ENSP00000514860.1:n.347-56237G>A
ENST00000700209.1:n.120G>A
ENST00000700210.1:c.829G>A
ENST00000417098.6:c.1175G>A MANE Select ENSP00000401112.1:p.Gly392Glu
ENST00000260926.9:c.1175G>A ENSP00000260926.5:p.Gly392Glu
ENST00000417098.5:c.1175G>A ENSP00000401112.1:p.Gly392Glu
ENST00000428695.5:c.821G>A ENSP00000388581.1:p.Gly274Glu
ENST00000443023.5:c.998G>A ENSP00000388764.1:p.Gly333Glu
ENST00000457245.5:c.1175G>A ENSP00000405420.1:p.Gly392Glu
ENST00000473517.1:n.127G>A
ENST00000614512.4:c.821G>A ENSP00000483287.1:p.Gly274Glu
NM_001172509.1:c.1175G>A NP_001165980.1:p.Gly392Glu
NM_001172517.1:c.1175G>A NP_001165988.1:p.Gly392Glu
NM_015265.3:c.1175G>A NP_056080.1:p.Gly392Glu
XM_005246396.1:c.1001G>A XP_005246453.1:p.Gly334Glu
XM_006712372.1:c.1175G>A XP_006712435.1:p.Gly392Glu
XM_011510840.1:c.1175G>A XP_011509142.1:p.Gly392Glu
XM_005246396.3:c.1001G>A XP_005246453.1:p.Gly334Glu
XM_011510840.3:c.1175G>A XP_011509142.1:p.Gly392Glu
XM_017003656.1:c.1001G>A XP_016859145.1:p.Gly334Glu
XM_024452767.1:c.752G>A XP_024308535.1:p.Gly251Glu
XM_024452768.1:c.752G>A XP_024308536.1:p.Gly251Glu
NM_001172509.2:c.1175G>A MANE Select NP_001165980.1:p.Gly392Glu
NM_015265.4:c.1175G>A NP_056080.1:p.Gly392Glu
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