Canonical Allele Identifier: CA430835253

Gene: SATB2

Linked Data

• ClinVar Variation Id: 2651803
• ClinVar RCV Id: RCV003429493
• MyVariant Identifiers: chr2:g.200213619G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348896G>T , CM000664.2:g.199348896G>T	GRCh38
NC_000002.11:g.200213619G>T , CM000664.1:g.200213619G>T	GRCh37
NC_000002.10:g.199921864G>T	NCBI36
NG_016976.1:g.127371C>A
NG_016976.2:g.127371C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.624C>A	ENSP00000388581.1:p.Leu208=
ENST00000700191.1:c.624C>A	ENSP00000514853.1:p.Leu208=
ENST00000700193.1:c.978C>A	ENSP00000514854.1:p.Leu326=
ENST00000700208.1:c.347-76224C>A	ENSP00000514860.1:n.347-76224C>A
ENST00000700210.1:c.632C>A
ENST00000417098.6:c.978C>A MANE Select	ENSP00000401112.1:p.Leu326=
ENST00000260926.9:c.978C>A	ENSP00000260926.5:p.Leu326=
ENST00000417098.5:c.978C>A	ENSP00000401112.1:p.Leu326=
ENST00000428695.5:c.624C>A	ENSP00000388581.1:p.Leu208=
ENST00000443023.5:c.801C>A	ENSP00000388764.1:p.Leu267=
ENST00000457245.5:c.978C>A	ENSP00000405420.1:p.Leu326=
ENST00000483346.2:n.617C>A
ENST00000614512.4:c.624C>A	ENSP00000483287.1:p.Leu208=
NM_001172509.1:c.978C>A	NP_001165980.1:p.Leu326=
NM_001172517.1:c.978C>A	NP_001165988.1:p.Leu326=
NM_015265.3:c.978C>A	NP_056080.1:p.Leu326=
XM_005246396.1:c.804C>A	XP_005246453.1:p.Leu268=
XM_006712372.1:c.978C>A	XP_006712435.1:p.Leu326=
XM_011510840.1:c.978C>A	XP_011509142.1:p.Leu326=
XM_005246396.3:c.804C>A	XP_005246453.1:p.Leu268=
XM_011510840.3:c.978C>A	XP_011509142.1:p.Leu326=
XM_017003656.1:c.804C>A	XP_016859145.1:p.Leu268=
XM_024452767.1:c.555C>A	XP_024308535.1:p.Leu185=
XM_024452768.1:c.555C>A	XP_024308536.1:p.Leu185=
NM_001172509.2:c.978C>A MANE Select	NP_001165980.1:p.Leu326=
NM_015265.4:c.978C>A	NP_056080.1:p.Leu326=