Canonical Allele Identifier: CA350387947

Gene: SATB2

Linked Data

• ClinVar Variation Id: 2106566
• ClinVar RCV Id: RCV003026536
• gnomAD v4: 2-199349000-T-G
• MyVariant Identifiers: chr2:g.200213723T>G (hg19) ; chr2:g.199349000T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199349000T>G , CM000664.2:g.199349000T>G	GRCh38
NC_000002.11:g.200213723T>G , CM000664.1:g.200213723T>G	GRCh37
NC_000002.10:g.199921968T>G	NCBI36
NG_016976.1:g.127267A>C
NG_016976.2:g.127267A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.520A>C	ENSP00000388581.1:p.Ile174Leu
ENST00000700191.1:c.520A>C	ENSP00000514853.1:p.Ile174Leu
ENST00000700193.1:c.874A>C	ENSP00000514854.1:p.Ile292Leu
ENST00000700208.1:c.347-76328A>C	ENSP00000514860.1:n.347-76328A>C
ENST00000700210.1:c.528A>C
ENST00000417098.6:c.874A>C MANE Select	ENSP00000401112.1:p.Ile292Leu
ENST00000260926.9:c.874A>C	ENSP00000260926.5:p.Ile292Leu
ENST00000417098.5:c.874A>C	ENSP00000401112.1:p.Ile292Leu
ENST00000428695.5:c.520A>C	ENSP00000388581.1:p.Ile174Leu
ENST00000443023.5:c.697A>C	ENSP00000388764.1:p.Ile233Leu
ENST00000457245.5:c.874A>C	ENSP00000405420.1:p.Ile292Leu
ENST00000483346.2:n.513A>C
ENST00000614512.4:c.520A>C	ENSP00000483287.1:p.Ile174Leu
NM_001172509.1:c.874A>C	NP_001165980.1:p.Ile292Leu
NM_001172517.1:c.874A>C	NP_001165988.1:p.Ile292Leu
NM_015265.3:c.874A>C	NP_056080.1:p.Ile292Leu
XM_005246396.1:c.700A>C	XP_005246453.1:p.Ile234Leu
XM_006712372.1:c.874A>C	XP_006712435.1:p.Ile292Leu
XM_011510840.1:c.874A>C	XP_011509142.1:p.Ile292Leu
XM_005246396.3:c.700A>C	XP_005246453.1:p.Ile234Leu
XM_011510840.3:c.874A>C	XP_011509142.1:p.Ile292Leu
XM_017003656.1:c.700A>C	XP_016859145.1:p.Ile234Leu
XM_024452767.1:c.451A>C	XP_024308535.1:p.Ile151Leu
XM_024452768.1:c.451A>C	XP_024308536.1:p.Ile151Leu
NM_001172509.2:c.874A>C MANE Select	NP_001165980.1:p.Ile292Leu
NM_015265.4:c.874A>C	NP_056080.1:p.Ile292Leu