Canonical Allele Identifier: CA430835316

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213676T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348953T>C , CM000664.2:g.199348953T>C	GRCh38
NC_000002.11:g.200213676T>C , CM000664.1:g.200213676T>C	GRCh37
NC_000002.10:g.199921921T>C	NCBI36
NG_016976.1:g.127314A>G
NG_016976.2:g.127314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.567A>G	ENSP00000388581.1:p.Val189=
ENST00000700191.1:c.567A>G	ENSP00000514853.1:p.Val189=
ENST00000700193.1:c.921A>G	ENSP00000514854.1:p.Val307=
ENST00000700208.1:c.347-76281A>G	ENSP00000514860.1:n.347-76281A>G
ENST00000700210.1:c.575A>G
ENST00000417098.6:c.921A>G MANE Select	ENSP00000401112.1:p.Val307=
ENST00000260926.9:c.921A>G	ENSP00000260926.5:p.Val307=
ENST00000417098.5:c.921A>G	ENSP00000401112.1:p.Val307=
ENST00000428695.5:c.567A>G	ENSP00000388581.1:p.Val189=
ENST00000443023.5:c.744A>G	ENSP00000388764.1:p.Val248=
ENST00000457245.5:c.921A>G	ENSP00000405420.1:p.Val307=
ENST00000483346.2:n.560A>G
ENST00000614512.4:c.567A>G	ENSP00000483287.1:p.Val189=
NM_001172509.1:c.921A>G	NP_001165980.1:p.Val307=
NM_001172517.1:c.921A>G	NP_001165988.1:p.Val307=
NM_015265.3:c.921A>G	NP_056080.1:p.Val307=
XM_005246396.1:c.747A>G	XP_005246453.1:p.Val249=
XM_006712372.1:c.921A>G	XP_006712435.1:p.Val307=
XM_011510840.1:c.921A>G	XP_011509142.1:p.Val307=
XM_005246396.3:c.747A>G	XP_005246453.1:p.Val249=
XM_011510840.3:c.921A>G	XP_011509142.1:p.Val307=
XM_017003656.1:c.747A>G	XP_016859145.1:p.Val249=
XM_024452767.1:c.498A>G	XP_024308535.1:p.Val166=
XM_024452768.1:c.498A>G	XP_024308536.1:p.Val166=
NM_001172509.2:c.921A>G MANE Select	NP_001165980.1:p.Val307=
NM_015265.4:c.921A>G	NP_056080.1:p.Val307=