Canonical Allele Identifier: CA350387602

Gene: SATB2

Linked Data

• ClinVar Variation Id: 3005174
• ClinVar RCV Id: RCV003868301
• gnomAD v4: 2-199348871-T-C
• MyVariant Identifiers: chr2:g.200213594T>C (hg19) ; chr2:g.199348871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348871T>C , CM000664.2:g.199348871T>C	GRCh38
NC_000002.11:g.200213594T>C , CM000664.1:g.200213594T>C	GRCh37
NC_000002.10:g.199921839T>C	NCBI36
NG_016976.1:g.127396A>G
NG_016976.2:g.127396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.649A>G	ENSP00000388581.1:p.Ile217Val
ENST00000700191.1:c.649A>G	ENSP00000514853.1:p.Ile217Val
ENST00000700193.1:c.1003A>G	ENSP00000514854.1:p.Ile335Val
ENST00000700208.1:c.347-76199A>G	ENSP00000514860.1:n.347-76199A>G
ENST00000700210.1:c.657A>G
ENST00000417098.6:c.1003A>G MANE Select	ENSP00000401112.1:p.Ile335Val
ENST00000260926.9:c.1003A>G	ENSP00000260926.5:p.Ile335Val
ENST00000417098.5:c.1003A>G	ENSP00000401112.1:p.Ile335Val
ENST00000428695.5:c.649A>G	ENSP00000388581.1:p.Ile217Val
ENST00000443023.5:c.826A>G	ENSP00000388764.1:p.Ile276Val
ENST00000457245.5:c.1003A>G	ENSP00000405420.1:p.Ile335Val
ENST00000483346.2:n.642A>G
ENST00000614512.4:c.649A>G	ENSP00000483287.1:p.Ile217Val
NM_001172509.1:c.1003A>G	NP_001165980.1:p.Ile335Val
NM_001172517.1:c.1003A>G	NP_001165988.1:p.Ile335Val
NM_015265.3:c.1003A>G	NP_056080.1:p.Ile335Val
XM_005246396.1:c.829A>G	XP_005246453.1:p.Ile277Val
XM_006712372.1:c.1003A>G	XP_006712435.1:p.Ile335Val
XM_011510840.1:c.1003A>G	XP_011509142.1:p.Ile335Val
XM_005246396.3:c.829A>G	XP_005246453.1:p.Ile277Val
XM_011510840.3:c.1003A>G	XP_011509142.1:p.Ile335Val
XM_017003656.1:c.829A>G	XP_016859145.1:p.Ile277Val
XM_024452767.1:c.580A>G	XP_024308535.1:p.Ile194Val
XM_024452768.1:c.580A>G	XP_024308536.1:p.Ile194Val
NM_001172509.2:c.1003A>G MANE Select	NP_001165980.1:p.Ile335Val
NM_015265.4:c.1003A>G	NP_056080.1:p.Ile335Val