Canonical Allele Identifier: CA64251728

Gene: SATB2

Linked Data

• dbSNP Id: rs1051544684
• gnomAD v4: 2-199348928-G-A
• MyVariant Identifiers: chr2:g.200213651G>A (hg19) ; chr2:g.199348928G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348928G>A , CM000664.2:g.199348928G>A	GRCh38
NC_000002.11:g.200213651G>A , CM000664.1:g.200213651G>A	GRCh37
NC_000002.10:g.199921896G>A	NCBI36
NG_016976.1:g.127339C>T
NG_016976.2:g.127339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.592C>T	ENSP00000388581.1:p.Leu198=
ENST00000700191.1:c.592C>T	ENSP00000514853.1:p.Leu198=
ENST00000700193.1:c.946C>T	ENSP00000514854.1:p.Leu316=
ENST00000700208.1:c.347-76256C>T	ENSP00000514860.1:n.347-76256C>T
ENST00000700210.1:c.600C>T
ENST00000417098.6:c.946C>T MANE Select	ENSP00000401112.1:p.Leu316=
ENST00000260926.9:c.946C>T	ENSP00000260926.5:p.Leu316=
ENST00000417098.5:c.946C>T	ENSP00000401112.1:p.Leu316=
ENST00000428695.5:c.592C>T	ENSP00000388581.1:p.Leu198=
ENST00000443023.5:c.769C>T	ENSP00000388764.1:p.Leu257=
ENST00000457245.5:c.946C>T	ENSP00000405420.1:p.Leu316=
ENST00000483346.2:n.585C>T
ENST00000614512.4:c.592C>T	ENSP00000483287.1:p.Leu198=
NM_001172509.1:c.946C>T	NP_001165980.1:p.Leu316=
NM_001172517.1:c.946C>T	NP_001165988.1:p.Leu316=
NM_015265.3:c.946C>T	NP_056080.1:p.Leu316=
XM_005246396.1:c.772C>T	XP_005246453.1:p.Leu258=
XM_006712372.1:c.946C>T	XP_006712435.1:p.Leu316=
XM_011510840.1:c.946C>T	XP_011509142.1:p.Leu316=
XM_005246396.3:c.772C>T	XP_005246453.1:p.Leu258=
XM_011510840.3:c.946C>T	XP_011509142.1:p.Leu316=
XM_017003656.1:c.772C>T	XP_016859145.1:p.Leu258=
XM_024452767.1:c.523C>T	XP_024308535.1:p.Leu175=
XM_024452768.1:c.523C>T	XP_024308536.1:p.Leu175=
NM_001172509.2:c.946C>T MANE Select	NP_001165980.1:p.Leu316=
NM_015265.4:c.946C>T	NP_056080.1:p.Leu316=