Canonical Allele Identifier: CA16617412
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 420691
ClinVar RCV Id: RCV000485195
dbSNP Id: rs1064794638
MyVariant Identifiers: chr2:g.200246498A>T (hg19) chr2:g.199381775A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199381775A>T , CM000664.2:g.199381775A>T GRCh38
NC_000002.11:g.200246498A>T , CM000664.1:g.200246498A>T GRCh37
NC_000002.10:g.199954743A>T NCBI36
NG_016976.1:g.94492T>A
NG_016976.2:g.94492T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000428695.6:c.347-32602T>A ENSP00000388581.1:n.347-32602T>A
ENST00000700191.1:c.347-32602T>A ENSP00000514853.1:n.347-32602T>A
ENST00000700193.1:c.392T>A ENSP00000514854.1:p.Val131Glu
ENST00000700208.1:c.346+51563T>A ENSP00000514860.1:n.346+51563T>A
ENST00000700210.1:c.46T>A
ENST00000417098.6:c.392T>A MANE Select ENSP00000401112.1:p.Val131Glu
ENST00000260926.9:c.392T>A ENSP00000260926.5:p.Val131Glu
ENST00000417098.5:c.392T>A ENSP00000401112.1:p.Val131Glu
ENST00000428695.5:c.347-32602T>A ENSP00000388581.1:n.347-32602T>A
ENST00000443023.5:c.215T>A ENSP00000388764.1:p.Val72Glu
ENST00000457245.5:c.392T>A ENSP00000405420.1:p.Val131Glu
ENST00000484124.1:n.276T>A
ENST00000614512.4:c.347-32602T>A ENSP00000483287.1:n.347-32602T>A
NM_001172509.1:c.392T>A NP_001165980.1:p.Val131Glu
NM_001172517.1:c.392T>A NP_001165988.1:p.Val131Glu
NM_015265.3:c.392T>A NP_056080.1:p.Val131Glu
XM_005246396.1:c.218T>A XP_005246453.1:p.Val73Glu
XM_006712372.1:c.392T>A XP_006712435.1:p.Val131Glu
XM_011510840.1:c.392T>A XP_011509142.1:p.Val131Glu
XM_005246396.3:c.218T>A XP_005246453.1:p.Val73Glu
XM_011510840.3:c.392T>A XP_011509142.1:p.Val131Glu
XM_017003656.1:c.218T>A XP_016859145.1:p.Val73Glu
XM_024452767.1:c.-32T>A XP_024308535.1:n.-32T>A
XM_024452768.1:c.-32T>A XP_024308536.1:n.-32T>A
NM_001172509.2:c.392T>A MANE Select NP_001165980.1:p.Val131Glu
NM_015265.4:c.392T>A NP_056080.1:p.Val131Glu
Search 100 bp 5'
Search 100 bp 3'