Canonical Allele Identifier: CA16617410
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422498
ClinVar RCV Id: RCV000479790
dbSNP Id: rs1064795817

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199380416A>G , CM000664.2:g.199380416A>G GRCh38
NC_000002.11:g.200245139A>G , CM000664.1:g.200245139A>G GRCh37
NC_000002.10:g.199953384A>G NCBI36
NG_016976.1:g.95851T>C
NG_016976.2:g.95851T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000428695.6:c.347-31243T>C ENSP00000388581.1:n.347-31243T>C
ENST00000700191.1:c.347-31243T>C ENSP00000514853.1:n.347-31243T>C
ENST00000700193.1:c.545T>C ENSP00000514854.1:p.Leu182Pro
ENST00000700208.1:c.346+52922T>C ENSP00000514860.1:n.346+52922T>C
ENST00000700210.1:c.199T>C
ENST00000417098.6:c.545T>C MANE Select ENSP00000401112.1:p.Leu182Pro
ENST00000260926.9:c.545T>C ENSP00000260926.5:p.Leu182Pro
ENST00000417098.5:c.545T>C ENSP00000401112.1:p.Leu182Pro
ENST00000428695.5:c.347-31243T>C ENSP00000388581.1:n.347-31243T>C
ENST00000443023.5:c.368T>C ENSP00000388764.1:p.Leu123Pro
ENST00000457245.5:c.545T>C ENSP00000405420.1:p.Leu182Pro
ENST00000484124.1:n.429T>C
ENST00000614512.4:c.347-31243T>C ENSP00000483287.1:n.347-31243T>C
NM_001172509.1:c.545T>C NP_001165980.1:p.Leu182Pro
NM_001172517.1:c.545T>C NP_001165988.1:p.Leu182Pro
NM_015265.3:c.545T>C NP_056080.1:p.Leu182Pro
XM_005246396.1:c.371T>C XP_005246453.1:p.Leu124Pro
XM_006712372.1:c.545T>C XP_006712435.1:p.Leu182Pro
XM_011510840.1:c.545T>C XP_011509142.1:p.Leu182Pro
XM_005246396.3:c.371T>C XP_005246453.1:p.Leu124Pro
XM_011510840.3:c.545T>C XP_011509142.1:p.Leu182Pro
XM_017003656.1:c.371T>C XP_016859145.1:p.Leu124Pro
XM_024452767.1:c.122T>C XP_024308535.1:p.Leu41Pro
XM_024452768.1:c.122T>C XP_024308536.1:p.Leu41Pro
NM_001172509.2:c.545T>C MANE Select NP_001165980.1:p.Leu182Pro
NM_015265.4:c.545T>C NP_056080.1:p.Leu182Pro