Canonical Allele Identifier: CA430835264

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213628A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348905A>C , CM000664.2:g.199348905A>C	GRCh38
NC_000002.11:g.200213628A>C , CM000664.1:g.200213628A>C	GRCh37
NC_000002.10:g.199921873A>C	NCBI36
NG_016976.1:g.127362T>G
NG_016976.2:g.127362T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.615T>G	ENSP00000388581.1:p.Val205=
ENST00000700191.1:c.615T>G	ENSP00000514853.1:p.Val205=
ENST00000700193.1:c.969T>G	ENSP00000514854.1:p.Val323=
ENST00000700208.1:c.347-76233T>G	ENSP00000514860.1:n.347-76233T>G
ENST00000700210.1:c.623T>G
ENST00000417098.6:c.969T>G MANE Select	ENSP00000401112.1:p.Val323=
ENST00000260926.9:c.969T>G	ENSP00000260926.5:p.Val323=
ENST00000417098.5:c.969T>G	ENSP00000401112.1:p.Val323=
ENST00000428695.5:c.615T>G	ENSP00000388581.1:p.Val205=
ENST00000443023.5:c.792T>G	ENSP00000388764.1:p.Val264=
ENST00000457245.5:c.969T>G	ENSP00000405420.1:p.Val323=
ENST00000483346.2:n.608T>G
ENST00000614512.4:c.615T>G	ENSP00000483287.1:p.Val205=
NM_001172509.1:c.969T>G	NP_001165980.1:p.Val323=
NM_001172517.1:c.969T>G	NP_001165988.1:p.Val323=
NM_015265.3:c.969T>G	NP_056080.1:p.Val323=
XM_005246396.1:c.795T>G	XP_005246453.1:p.Val265=
XM_006712372.1:c.969T>G	XP_006712435.1:p.Val323=
XM_011510840.1:c.969T>G	XP_011509142.1:p.Val323=
XM_005246396.3:c.795T>G	XP_005246453.1:p.Val265=
XM_011510840.3:c.969T>G	XP_011509142.1:p.Val323=
XM_017003656.1:c.795T>G	XP_016859145.1:p.Val265=
XM_024452767.1:c.546T>G	XP_024308535.1:p.Val182=
XM_024452768.1:c.546T>G	XP_024308536.1:p.Val182=
NM_001172509.2:c.969T>G MANE Select	NP_001165980.1:p.Val323=
NM_015265.4:c.969T>G	NP_056080.1:p.Val323=