Canonical Allele Identifier: CA350387473

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200213561G>C (hg19) ; chr2:g.199348838G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348838G>C , CM000664.2:g.199348838G>C	GRCh38
NC_000002.11:g.200213561G>C , CM000664.1:g.200213561G>C	GRCh37
NC_000002.10:g.199921806G>C	NCBI36
NG_016976.1:g.127429C>G
NG_016976.2:g.127429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.682C>G	ENSP00000388581.1:p.Pro228Ala
ENST00000700191.1:c.682C>G	ENSP00000514853.1:p.Pro228Ala
ENST00000700193.1:c.1036C>G	ENSP00000514854.1:p.Pro346Ala
ENST00000700208.1:c.347-76166C>G	ENSP00000514860.1:n.347-76166C>G
ENST00000700210.1:c.690C>G
ENST00000417098.6:c.1036C>G MANE Select	ENSP00000401112.1:p.Pro346Ala
ENST00000260926.9:c.1036C>G	ENSP00000260926.5:p.Pro346Ala
ENST00000417098.5:c.1036C>G	ENSP00000401112.1:p.Pro346Ala
ENST00000428695.5:c.682C>G	ENSP00000388581.1:p.Pro228Ala
ENST00000443023.5:c.859C>G	ENSP00000388764.1:p.Pro287Ala
ENST00000457245.5:c.1036C>G	ENSP00000405420.1:p.Pro346Ala
ENST00000483346.2:n.675C>G
ENST00000614512.4:c.682C>G	ENSP00000483287.1:p.Pro228Ala
NM_001172509.1:c.1036C>G	NP_001165980.1:p.Pro346Ala
NM_001172517.1:c.1036C>G	NP_001165988.1:p.Pro346Ala
NM_015265.3:c.1036C>G	NP_056080.1:p.Pro346Ala
XM_005246396.1:c.862C>G	XP_005246453.1:p.Pro288Ala
XM_006712372.1:c.1036C>G	XP_006712435.1:p.Pro346Ala
XM_011510840.1:c.1036C>G	XP_011509142.1:p.Pro346Ala
XM_005246396.3:c.862C>G	XP_005246453.1:p.Pro288Ala
XM_011510840.3:c.1036C>G	XP_011509142.1:p.Pro346Ala
XM_017003656.1:c.862C>G	XP_016859145.1:p.Pro288Ala
XM_024452767.1:c.613C>G	XP_024308535.1:p.Pro205Ala
XM_024452768.1:c.613C>G	XP_024308536.1:p.Pro205Ala
NM_001172509.2:c.1036C>G MANE Select	NP_001165980.1:p.Pro346Ala
NM_015265.4:c.1036C>G	NP_056080.1:p.Pro346Ala