Canonical Allele Identifier: CA350385185

Gene: SATB2

Linked Data

• ClinVar Variation Id: 2876811
• ClinVar RCV Id: RCV003742466
• dbSNP Id: rs1443276216
• gnomAD v2: 2-200137032-C-T
• gnomAD v4: 2-199272309-C-T
• MyVariant Identifiers: chr2:g.200137032C>T (hg19) ; chr2:g.199272309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199272309C>T , CM000664.2:g.199272309C>T	GRCh38
NC_000002.11:g.200137032C>T , CM000664.1:g.200137032C>T	GRCh37
NC_000002.10:g.199845277C>T	NCBI36
NG_016976.1:g.203958G>A
NG_016976.2:g.203958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.1750G>A	ENSP00000388581.1:p.Asp584Asn
ENST00000700191.1:c.1750G>A	ENSP00000514853.1:p.Asp584Asn
ENST00000700192.1:n.1193G>A
ENST00000700193.1:c.2104G>A	ENSP00000514854.1:p.Asp702Asn
ENST00000700207.1:n.1012G>A
ENST00000700208.1:c.*353G>A	ENSP00000514860.1:n.*353G>A
ENST00000700209.1:n.1049G>A
ENST00000417098.6:c.2104G>A MANE Select	ENSP00000401112.1:p.Asp702Asn
ENST00000260926.9:c.2104G>A	ENSP00000260926.5:p.Asp702Asn
ENST00000417098.5:c.2104G>A	ENSP00000401112.1:p.Asp702Asn
ENST00000428695.5:c.1750G>A	ENSP00000388581.1:p.Asp584Asn
ENST00000443023.5:c.1927G>A	ENSP00000388764.1:p.Asp643Asn
ENST00000457245.5:c.2104G>A	ENSP00000405420.1:p.Asp702Asn
ENST00000614512.4:c.1750G>A	ENSP00000483287.1:p.Asp584Asn
NM_001172509.1:c.2104G>A	NP_001165980.1:p.Asp702Asn
NM_001172517.1:c.2104G>A	NP_001165988.1:p.Asp702Asn
NM_015265.3:c.2104G>A	NP_056080.1:p.Asp702Asn
XM_005246396.1:c.1930G>A	XP_005246453.1:p.Asp644Asn
XM_006712372.1:c.2104G>A	XP_006712435.1:p.Asp702Asn
XM_011510840.1:c.2104G>A	XP_011509142.1:p.Asp702Asn
XM_005246396.3:c.1930G>A	XP_005246453.1:p.Asp644Asn
XM_011510840.3:c.2104G>A	XP_011509142.1:p.Asp702Asn
XM_017003656.1:c.1930G>A	XP_016859145.1:p.Asp644Asn
XM_024452767.1:c.1681G>A	XP_024308535.1:p.Asp561Asn
XM_024452768.1:c.1681G>A	XP_024308536.1:p.Asp561Asn
NM_001172509.2:c.2104G>A MANE Select	NP_001165980.1:p.Asp702Asn
NM_015265.4:c.2104G>A	NP_056080.1:p.Asp702Asn