Canonical Allele Identifier: CA430835340

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213697G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348974G>T , CM000664.2:g.199348974G>T	GRCh38
NC_000002.11:g.200213697G>T , CM000664.1:g.200213697G>T	GRCh37
NC_000002.10:g.199921942G>T	NCBI36
NG_016976.1:g.127293C>A
NG_016976.2:g.127293C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.546C>A	ENSP00000388581.1:p.Pro182=
ENST00000700191.1:c.546C>A	ENSP00000514853.1:p.Pro182=
ENST00000700193.1:c.900C>A	ENSP00000514854.1:p.Pro300=
ENST00000700208.1:c.347-76302C>A	ENSP00000514860.1:n.347-76302C>A
ENST00000700210.1:c.554C>A
ENST00000417098.6:c.900C>A MANE Select	ENSP00000401112.1:p.Pro300=
ENST00000260926.9:c.900C>A	ENSP00000260926.5:p.Pro300=
ENST00000417098.5:c.900C>A	ENSP00000401112.1:p.Pro300=
ENST00000428695.5:c.546C>A	ENSP00000388581.1:p.Pro182=
ENST00000443023.5:c.723C>A	ENSP00000388764.1:p.Pro241=
ENST00000457245.5:c.900C>A	ENSP00000405420.1:p.Pro300=
ENST00000483346.2:n.539C>A
ENST00000614512.4:c.546C>A	ENSP00000483287.1:p.Pro182=
NM_001172509.1:c.900C>A	NP_001165980.1:p.Pro300=
NM_001172517.1:c.900C>A	NP_001165988.1:p.Pro300=
NM_015265.3:c.900C>A	NP_056080.1:p.Pro300=
XM_005246396.1:c.726C>A	XP_005246453.1:p.Pro242=
XM_006712372.1:c.900C>A	XP_006712435.1:p.Pro300=
XM_011510840.1:c.900C>A	XP_011509142.1:p.Pro300=
XM_005246396.3:c.726C>A	XP_005246453.1:p.Pro242=
XM_011510840.3:c.900C>A	XP_011509142.1:p.Pro300=
XM_017003656.1:c.726C>A	XP_016859145.1:p.Pro242=
XM_024452767.1:c.477C>A	XP_024308535.1:p.Pro159=
XM_024452768.1:c.477C>A	XP_024308536.1:p.Pro159=
NM_001172509.2:c.900C>A MANE Select	NP_001165980.1:p.Pro300=
NM_015265.4:c.900C>A	NP_056080.1:p.Pro300=