Canonical Allele Identifier: CA350387730

Gene: SATB2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348907C>G , CM000664.2:g.199348907C>G	GRCh38
NC_000002.11:g.200213630C>G , CM000664.1:g.200213630C>G	GRCh37
NC_000002.10:g.199921875C>G	NCBI36
NG_016976.1:g.127360G>C
NG_016976.2:g.127360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.613G>C	ENSP00000388581.1:p.Val205Leu
ENST00000700191.1:c.613G>C	ENSP00000514853.1:p.Val205Leu
ENST00000700193.1:c.967G>C	ENSP00000514854.1:p.Val323Leu
ENST00000700208.1:c.347-76235G>C	ENSP00000514860.1:n.347-76235G>C
ENST00000700210.1:c.621G>C
ENST00000417098.6:c.967G>C MANE Select	ENSP00000401112.1:p.Val323Leu
ENST00000260926.9:c.967G>C	ENSP00000260926.5:p.Val323Leu
ENST00000417098.5:c.967G>C	ENSP00000401112.1:p.Val323Leu
ENST00000428695.5:c.613G>C	ENSP00000388581.1:p.Val205Leu
ENST00000443023.5:c.790G>C	ENSP00000388764.1:p.Val264Leu
ENST00000457245.5:c.967G>C	ENSP00000405420.1:p.Val323Leu
ENST00000483346.2:n.606G>C
ENST00000614512.4:c.613G>C	ENSP00000483287.1:p.Val205Leu
NM_001172509.1:c.967G>C	NP_001165980.1:p.Val323Leu
NM_001172517.1:c.967G>C	NP_001165988.1:p.Val323Leu
NM_015265.3:c.967G>C	NP_056080.1:p.Val323Leu
XM_005246396.1:c.793G>C	XP_005246453.1:p.Val265Leu
XM_006712372.1:c.967G>C	XP_006712435.1:p.Val323Leu
XM_011510840.1:c.967G>C	XP_011509142.1:p.Val323Leu
XM_005246396.3:c.793G>C	XP_005246453.1:p.Val265Leu
XM_011510840.3:c.967G>C	XP_011509142.1:p.Val323Leu
XM_017003656.1:c.793G>C	XP_016859145.1:p.Val265Leu
XM_024452767.1:c.544G>C	XP_024308535.1:p.Val182Leu
XM_024452768.1:c.544G>C	XP_024308536.1:p.Val182Leu
NM_001172509.2:c.967G>C MANE Select	NP_001165980.1:p.Val323Leu
NM_015265.4:c.967G>C	NP_056080.1:p.Val323Leu