Canonical Allele Identifier: CA350387680

Gene: SATB2

Linked Data

• ClinVar Variation Id: 2971310
• ClinVar RCV Id: RCV003827492
• gnomAD v4: 2-199348892-C-A
• MyVariant Identifiers: chr2:g.200213615C>A (hg19) ; chr2:g.199348892C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348892C>A , CM000664.2:g.199348892C>A	GRCh38
NC_000002.11:g.200213615C>A , CM000664.1:g.200213615C>A	GRCh37
NC_000002.10:g.199921860C>A	NCBI36
NG_016976.1:g.127375G>T
NG_016976.2:g.127375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.628G>T	ENSP00000388581.1:p.Ala210Ser
ENST00000700191.1:c.628G>T	ENSP00000514853.1:p.Ala210Ser
ENST00000700193.1:c.982G>T	ENSP00000514854.1:p.Ala328Ser
ENST00000700208.1:c.347-76220G>T	ENSP00000514860.1:n.347-76220G>T
ENST00000700210.1:c.636G>T
ENST00000417098.6:c.982G>T MANE Select	ENSP00000401112.1:p.Ala328Ser
ENST00000260926.9:c.982G>T	ENSP00000260926.5:p.Ala328Ser
ENST00000417098.5:c.982G>T	ENSP00000401112.1:p.Ala328Ser
ENST00000428695.5:c.628G>T	ENSP00000388581.1:p.Ala210Ser
ENST00000443023.5:c.805G>T	ENSP00000388764.1:p.Ala269Ser
ENST00000457245.5:c.982G>T	ENSP00000405420.1:p.Ala328Ser
ENST00000483346.2:n.621G>T
ENST00000614512.4:c.628G>T	ENSP00000483287.1:p.Ala210Ser
NM_001172509.1:c.982G>T	NP_001165980.1:p.Ala328Ser
NM_001172517.1:c.982G>T	NP_001165988.1:p.Ala328Ser
NM_015265.3:c.982G>T	NP_056080.1:p.Ala328Ser
XM_005246396.1:c.808G>T	XP_005246453.1:p.Ala270Ser
XM_006712372.1:c.982G>T	XP_006712435.1:p.Ala328Ser
XM_011510840.1:c.982G>T	XP_011509142.1:p.Ala328Ser
XM_005246396.3:c.808G>T	XP_005246453.1:p.Ala270Ser
XM_011510840.3:c.982G>T	XP_011509142.1:p.Ala328Ser
XM_017003656.1:c.808G>T	XP_016859145.1:p.Ala270Ser
XM_024452767.1:c.559G>T	XP_024308535.1:p.Ala187Ser
XM_024452768.1:c.559G>T	XP_024308536.1:p.Ala187Ser
NM_001172509.2:c.982G>T MANE Select	NP_001165980.1:p.Ala328Ser
NM_015265.4:c.982G>T	NP_056080.1:p.Ala328Ser