Canonical Allele Identifier: CA350387773

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213645T>C (hg19) ; chr2:g.199348922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348922T>C , CM000664.2:g.199348922T>C	GRCh38
NC_000002.11:g.200213645T>C , CM000664.1:g.200213645T>C	GRCh37
NC_000002.10:g.199921890T>C	NCBI36
NG_016976.1:g.127345A>G
NG_016976.2:g.127345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.598A>G	ENSP00000388581.1:p.Asn200Asp
ENST00000700191.1:c.598A>G	ENSP00000514853.1:p.Asn200Asp
ENST00000700193.1:c.952A>G	ENSP00000514854.1:p.Asn318Asp
ENST00000700208.1:c.347-76250A>G	ENSP00000514860.1:n.347-76250A>G
ENST00000700210.1:c.606A>G
ENST00000417098.6:c.952A>G MANE Select	ENSP00000401112.1:p.Asn318Asp
ENST00000260926.9:c.952A>G	ENSP00000260926.5:p.Asn318Asp
ENST00000417098.5:c.952A>G	ENSP00000401112.1:p.Asn318Asp
ENST00000428695.5:c.598A>G	ENSP00000388581.1:p.Asn200Asp
ENST00000443023.5:c.775A>G	ENSP00000388764.1:p.Asn259Asp
ENST00000457245.5:c.952A>G	ENSP00000405420.1:p.Asn318Asp
ENST00000483346.2:n.591A>G
ENST00000614512.4:c.598A>G	ENSP00000483287.1:p.Asn200Asp
NM_001172509.1:c.952A>G	NP_001165980.1:p.Asn318Asp
NM_001172517.1:c.952A>G	NP_001165988.1:p.Asn318Asp
NM_015265.3:c.952A>G	NP_056080.1:p.Asn318Asp
XM_005246396.1:c.778A>G	XP_005246453.1:p.Asn260Asp
XM_006712372.1:c.952A>G	XP_006712435.1:p.Asn318Asp
XM_011510840.1:c.952A>G	XP_011509142.1:p.Asn318Asp
XM_005246396.3:c.778A>G	XP_005246453.1:p.Asn260Asp
XM_011510840.3:c.952A>G	XP_011509142.1:p.Asn318Asp
XM_017003656.1:c.778A>G	XP_016859145.1:p.Asn260Asp
XM_024452767.1:c.529A>G	XP_024308535.1:p.Asn177Asp
XM_024452768.1:c.529A>G	XP_024308536.1:p.Asn177Asp
NM_001172509.2:c.952A>G MANE Select	NP_001165980.1:p.Asn318Asp
NM_015265.4:c.952A>G	NP_056080.1:p.Asn318Asp