Canonical Allele Identifier: CA350386394

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200193543G>C (hg19) ; chr2:g.199328820G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199328820G>C , CM000664.2:g.199328820G>C	GRCh38
NC_000002.11:g.200193543G>C , CM000664.1:g.200193543G>C	GRCh37
NC_000002.10:g.199901788G>C	NCBI36
NG_016976.1:g.147447C>G
NG_016976.2:g.147447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.910C>G	ENSP00000388581.1:p.Leu304Val
ENST00000700191.1:c.910C>G	ENSP00000514853.1:p.Leu304Val
ENST00000700192.1:n.214C>G
ENST00000700193.1:c.1264C>G	ENSP00000514854.1:p.Leu422Val
ENST00000700207.1:n.172C>G
ENST00000700208.1:c.347-56148C>G	ENSP00000514860.1:n.347-56148C>G
ENST00000700209.1:n.209C>G
ENST00000700210.1:c.918C>G
ENST00000417098.6:c.1264C>G MANE Select	ENSP00000401112.1:p.Leu422Val
ENST00000260926.9:c.1264C>G	ENSP00000260926.5:p.Leu422Val
ENST00000417098.5:c.1264C>G	ENSP00000401112.1:p.Leu422Val
ENST00000428695.5:c.910C>G	ENSP00000388581.1:p.Leu304Val
ENST00000443023.5:c.1087C>G	ENSP00000388764.1:p.Leu363Val
ENST00000457245.5:c.1264C>G	ENSP00000405420.1:p.Leu422Val
ENST00000473517.1:n.216C>G
ENST00000614512.4:c.910C>G	ENSP00000483287.1:p.Leu304Val
NM_001172509.1:c.1264C>G	NP_001165980.1:p.Leu422Val
NM_001172517.1:c.1264C>G	NP_001165988.1:p.Leu422Val
NM_015265.3:c.1264C>G	NP_056080.1:p.Leu422Val
XM_005246396.1:c.1090C>G	XP_005246453.1:p.Leu364Val
XM_006712372.1:c.1264C>G	XP_006712435.1:p.Leu422Val
XM_011510840.1:c.1264C>G	XP_011509142.1:p.Leu422Val
XM_005246396.3:c.1090C>G	XP_005246453.1:p.Leu364Val
XM_011510840.3:c.1264C>G	XP_011509142.1:p.Leu422Val
XM_017003656.1:c.1090C>G	XP_016859145.1:p.Leu364Val
XM_024452767.1:c.841C>G	XP_024308535.1:p.Leu281Val
XM_024452768.1:c.841C>G	XP_024308536.1:p.Leu281Val
NM_001172509.2:c.1264C>G MANE Select	NP_001165980.1:p.Leu422Val
NM_015265.4:c.1264C>G	NP_056080.1:p.Leu422Val