Canonical Allele Identifier: CA2045995
Gene: SATB2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.199349015G>A
GRCh37 chr2:g.200213738G>A
Revel Score:
ENST00000417098 (MANE Select) 0.123
ENST00000443023 0.123
ENST00000260926 0.123
ENST00000428695 0.123
ENST00000457245 0.123
ClinVar RCV:
RCV001891527
ClinVar Variation:
1396001
dbSNP:
768080548
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199349015G>A , CM000664.2:g.199349015G>A GRCh38
NC_000002.11:g.200213738G>A , CM000664.1:g.200213738G>A GRCh37
NC_000002.10:g.199921983G>A NCBI36
NG_016976.1:g.127252C>T
NG_016976.2:g.127252C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000428695.6:c.505C>T ENSP00000388581.1:p.Pro169Ser
ENST00000700191.1:c.505C>T ENSP00000514853.1:p.Pro169Ser
ENST00000700193.1:c.859C>T ENSP00000514854.1:p.Pro287Ser
ENST00000700208.1:c.347-76343C>T ENSP00000514860.1:n.347-76343C>T
ENST00000700210.1:c.513C>T
ENST00000417098.6:c.859C>T MANE Select ENSP00000401112.1:p.Pro287Ser
ENST00000260926.9:c.859C>T ENSP00000260926.5:p.Pro287Ser
ENST00000417098.5:c.859C>T ENSP00000401112.1:p.Pro287Ser
ENST00000428695.5:c.505C>T ENSP00000388581.1:p.Pro169Ser
ENST00000443023.5:c.682C>T ENSP00000388764.1:p.Pro228Ser
ENST00000457245.5:c.859C>T ENSP00000405420.1:p.Pro287Ser
ENST00000483346.2:n.498C>T
ENST00000614512.4:c.505C>T ENSP00000483287.1:p.Pro169Ser
NM_001172509.1:c.859C>T NP_001165980.1:p.Pro287Ser
NM_001172517.1:c.859C>T NP_001165988.1:p.Pro287Ser
NM_015265.3:c.859C>T NP_056080.1:p.Pro287Ser
XM_005246396.1:c.685C>T XP_005246453.1:p.Pro229Ser
XM_006712372.1:c.859C>T XP_006712435.1:p.Pro287Ser
XM_011510840.1:c.859C>T XP_011509142.1:p.Pro287Ser
XM_005246396.3:c.685C>T XP_005246453.1:p.Pro229Ser
XM_011510840.3:c.859C>T XP_011509142.1:p.Pro287Ser
XM_017003656.1:c.685C>T XP_016859145.1:p.Pro229Ser
XM_024452767.1:c.436C>T XP_024308535.1:p.Pro146Ser
XM_024452768.1:c.436C>T XP_024308536.1:p.Pro146Ser
NM_001172509.2:c.859C>T MANE Select NP_001165980.1:p.Pro287Ser
NM_015265.4:c.859C>T NP_056080.1:p.Pro287Ser
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