Canonical Allele Identifier: CA350388443

Gene: SATB2

Linked Data

• gnomAD v4: 2-199455919-G-A
• MyVariant Identifiers: chr2:g.200320642G>A (hg19) ; chr2:g.199455919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199455919G>A , CM000664.2:g.199455919G>A	GRCh38
NC_000002.11:g.200320642G>A , CM000664.1:g.200320642G>A	GRCh37
NC_000002.10:g.200028887G>A	NCBI36
NG_016976.1:g.20348C>T
NG_016976.2:g.20348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.119C>T	ENSP00000388581.1:p.Pro40Leu
ENST00000700191.1:c.119C>T	ENSP00000514853.1:p.Pro40Leu
ENST00000700193.1:c.119C>T	ENSP00000514854.1:p.Pro40Leu
ENST00000700194.1:n.377C>T
ENST00000700208.1:c.119C>T	ENSP00000514860.1:p.Pro40Leu
ENST00000417098.6:c.119C>T MANE Select	ENSP00000401112.1:p.Pro40Leu
ENST00000260926.9:c.119C>T	ENSP00000260926.5:p.Pro40Leu
ENST00000417098.5:c.119C>T	ENSP00000401112.1:p.Pro40Leu
ENST00000428695.5:c.119C>T	ENSP00000388581.1:p.Pro40Leu
ENST00000440919.1:c.119C>T	ENSP00000415610.1:p.Pro40Leu
ENST00000443023.5:c.119C>T	ENSP00000388764.1:p.Pro40Leu
ENST00000457245.5:c.119C>T	ENSP00000405420.1:p.Pro40Leu
ENST00000614512.4:c.119C>T	ENSP00000483287.1:p.Pro40Leu
NM_001172509.1:c.119C>T	NP_001165980.1:p.Pro40Leu
NM_001172517.1:c.119C>T	NP_001165988.1:p.Pro40Leu
NM_015265.3:c.119C>T	NP_056080.1:p.Pro40Leu
XM_005246396.1:c.-6+4533C>T	XP_005246453.1:n.-6+4533C>T
XM_006712372.1:c.119C>T	XP_006712435.1:p.Pro40Leu
XM_011510840.1:c.119C>T	XP_011509142.1:p.Pro40Leu
NR_134967.1:n.936C>T
XM_005246396.3:c.-6+4533C>T	XP_005246453.1:n.-6+4533C>T
XM_011510840.3:c.119C>T	XP_011509142.1:p.Pro40Leu
XM_017003656.1:c.-6+4533C>T	XP_016859145.1:n.-6+4533C>T
NM_001172509.2:c.119C>T MANE Select	NP_001165980.1:p.Pro40Leu
NM_015265.4:c.119C>T	NP_056080.1:p.Pro40Leu
NR_134967.2:n.779C>T