Canonical Allele Identifier: CA350386360

Gene: SATB2

Linked Data

• ClinVar Variation Id: 1389814
• ClinVar RCV Id: RCV001898085
• dbSNP Id: rs2105795391
• MyVariant Identifiers: chr2:g.200193527A>G (hg19) ; chr2:g.199328804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199328804A>G , CM000664.2:g.199328804A>G	GRCh38
NC_000002.11:g.200193527A>G , CM000664.1:g.200193527A>G	GRCh37
NC_000002.10:g.199901772A>G	NCBI36
NG_016976.1:g.147463T>C
NG_016976.2:g.147463T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.926T>C	ENSP00000388581.1:p.Val309Ala
ENST00000700191.1:c.926T>C	ENSP00000514853.1:p.Val309Ala
ENST00000700192.1:n.230T>C
ENST00000700193.1:c.1280T>C	ENSP00000514854.1:p.Val427Ala
ENST00000700207.1:n.188T>C
ENST00000700208.1:c.347-56132T>C	ENSP00000514860.1:n.347-56132T>C
ENST00000700209.1:n.225T>C
ENST00000700210.1:c.934T>C
ENST00000417098.6:c.1280T>C MANE Select	ENSP00000401112.1:p.Val427Ala
ENST00000260926.9:c.1280T>C	ENSP00000260926.5:p.Val427Ala
ENST00000417098.5:c.1280T>C	ENSP00000401112.1:p.Val427Ala
ENST00000428695.5:c.926T>C	ENSP00000388581.1:p.Val309Ala
ENST00000443023.5:c.1103T>C	ENSP00000388764.1:p.Val368Ala
ENST00000457245.5:c.1280T>C	ENSP00000405420.1:p.Val427Ala
ENST00000473517.1:n.232T>C
ENST00000614512.4:c.926T>C	ENSP00000483287.1:p.Val309Ala
NM_001172509.1:c.1280T>C	NP_001165980.1:p.Val427Ala
NM_001172517.1:c.1280T>C	NP_001165988.1:p.Val427Ala
NM_015265.3:c.1280T>C	NP_056080.1:p.Val427Ala
XM_005246396.1:c.1106T>C	XP_005246453.1:p.Val369Ala
XM_006712372.1:c.1280T>C	XP_006712435.1:p.Val427Ala
XM_011510840.1:c.1280T>C	XP_011509142.1:p.Val427Ala
XM_005246396.3:c.1106T>C	XP_005246453.1:p.Val369Ala
XM_011510840.3:c.1280T>C	XP_011509142.1:p.Val427Ala
XM_017003656.1:c.1106T>C	XP_016859145.1:p.Val369Ala
XM_024452767.1:c.857T>C	XP_024308535.1:p.Val286Ala
XM_024452768.1:c.857T>C	XP_024308536.1:p.Val286Ala
NM_001172509.2:c.1280T>C MANE Select	NP_001165980.1:p.Val427Ala
NM_015265.4:c.1280T>C	NP_056080.1:p.Val427Ala