Canonical Allele Identifier: CA350387563

Gene: SATB2

Linked Data

• dbSNP Id: rs1222623089
• gnomAD v2: 2-200213585-G-C
• gnomAD v4: 2-199348862-G-C
• MyVariant Identifiers: chr2:g.200213585G>C (hg19) ; chr2:g.199348862G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348862G>C , CM000664.2:g.199348862G>C	GRCh38
NC_000002.11:g.200213585G>C , CM000664.1:g.200213585G>C	GRCh37
NC_000002.10:g.199921830G>C	NCBI36
NG_016976.1:g.127405C>G
NG_016976.2:g.127405C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.658C>G	ENSP00000388581.1:p.Gln220Glu
ENST00000700191.1:c.658C>G	ENSP00000514853.1:p.Gln220Glu
ENST00000700193.1:c.1012C>G	ENSP00000514854.1:p.Gln338Glu
ENST00000700208.1:c.347-76190C>G	ENSP00000514860.1:n.347-76190C>G
ENST00000700210.1:c.666C>G
ENST00000417098.6:c.1012C>G MANE Select	ENSP00000401112.1:p.Gln338Glu
ENST00000260926.9:c.1012C>G	ENSP00000260926.5:p.Gln338Glu
ENST00000417098.5:c.1012C>G	ENSP00000401112.1:p.Gln338Glu
ENST00000428695.5:c.658C>G	ENSP00000388581.1:p.Gln220Glu
ENST00000443023.5:c.835C>G	ENSP00000388764.1:p.Gln279Glu
ENST00000457245.5:c.1012C>G	ENSP00000405420.1:p.Gln338Glu
ENST00000483346.2:n.651C>G
ENST00000614512.4:c.658C>G	ENSP00000483287.1:p.Gln220Glu
NM_001172509.1:c.1012C>G	NP_001165980.1:p.Gln338Glu
NM_001172517.1:c.1012C>G	NP_001165988.1:p.Gln338Glu
NM_015265.3:c.1012C>G	NP_056080.1:p.Gln338Glu
XM_005246396.1:c.838C>G	XP_005246453.1:p.Gln280Glu
XM_006712372.1:c.1012C>G	XP_006712435.1:p.Gln338Glu
XM_011510840.1:c.1012C>G	XP_011509142.1:p.Gln338Glu
XM_005246396.3:c.838C>G	XP_005246453.1:p.Gln280Glu
XM_011510840.3:c.1012C>G	XP_011509142.1:p.Gln338Glu
XM_017003656.1:c.838C>G	XP_016859145.1:p.Gln280Glu
XM_024452767.1:c.589C>G	XP_024308535.1:p.Gln197Glu
XM_024452768.1:c.589C>G	XP_024308536.1:p.Gln197Glu
NM_001172509.2:c.1012C>G MANE Select	NP_001165980.1:p.Gln338Glu
NM_015265.4:c.1012C>G	NP_056080.1:p.Gln338Glu