Canonical Allele Identifier: CA430835324

Gene: SATB2

Linked Data

• ClinVar Variation Id: 753205
• ClinVar RCV Id: RCV002544421
• dbSNP Id: rs1440871358
• gnomAD v2: 2-200213682-T-C
• gnomAD v3: 2-199348959-T-C
• gnomAD v4: 2-199348959-T-C
• COSMIC: COSM4455827
• MyVariant Identifiers: chr2:g.200213682T>C (hg19) ; chr2:g.199348959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348959T>C , CM000664.2:g.199348959T>C	GRCh38
NC_000002.11:g.200213682T>C , CM000664.1:g.200213682T>C	GRCh37
NC_000002.10:g.199921927T>C	NCBI36
NG_016976.1:g.127308A>G
NG_016976.2:g.127308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.561A>G	ENSP00000388581.1:p.Gln187=
ENST00000700191.1:c.561A>G	ENSP00000514853.1:p.Gln187=
ENST00000700193.1:c.915A>G	ENSP00000514854.1:p.Gln305=
ENST00000700208.1:c.347-76287A>G	ENSP00000514860.1:n.347-76287A>G
ENST00000700210.1:c.569A>G
ENST00000417098.6:c.915A>G MANE Select	ENSP00000401112.1:p.Gln305=
ENST00000260926.9:c.915A>G	ENSP00000260926.5:p.Gln305=
ENST00000417098.5:c.915A>G	ENSP00000401112.1:p.Gln305=
ENST00000428695.5:c.561A>G	ENSP00000388581.1:p.Gln187=
ENST00000443023.5:c.738A>G	ENSP00000388764.1:p.Gln246=
ENST00000457245.5:c.915A>G	ENSP00000405420.1:p.Gln305=
ENST00000483346.2:n.554A>G
ENST00000614512.4:c.561A>G	ENSP00000483287.1:p.Gln187=
NM_001172509.1:c.915A>G	NP_001165980.1:p.Gln305=
NM_001172517.1:c.915A>G	NP_001165988.1:p.Gln305=
NM_015265.3:c.915A>G	NP_056080.1:p.Gln305=
XM_005246396.1:c.741A>G	XP_005246453.1:p.Gln247=
XM_006712372.1:c.915A>G	XP_006712435.1:p.Gln305=
XM_011510840.1:c.915A>G	XP_011509142.1:p.Gln305=
XM_005246396.3:c.741A>G	XP_005246453.1:p.Gln247=
XM_011510840.3:c.915A>G	XP_011509142.1:p.Gln305=
XM_017003656.1:c.741A>G	XP_016859145.1:p.Gln247=
XM_024452767.1:c.492A>G	XP_024308535.1:p.Gln164=
XM_024452768.1:c.492A>G	XP_024308536.1:p.Gln164=
NM_001172509.2:c.915A>G MANE Select	NP_001165980.1:p.Gln305=
NM_015265.4:c.915A>G	NP_056080.1:p.Gln305=