Canonical Allele Identifier: CA350388536

Gene: SATB2

Linked Data

• ClinVar Variation Id: 1063554
• ClinVar RCV Id: RCV001373401
• dbSNP Id: rs1473042227
• gnomAD v2: 2-200320685-G-C
• gnomAD v3: 2-199455962-G-C
• gnomAD v4: 2-199455962-G-C
• MyVariant Identifiers: chr2:g.200320685G>C (hg19) ; chr2:g.199455962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199455962G>C , CM000664.2:g.199455962G>C	GRCh38
NC_000002.11:g.200320685G>C , CM000664.1:g.200320685G>C	GRCh37
NC_000002.10:g.200028930G>C	NCBI36
NG_016976.1:g.20305C>G
NG_016976.2:g.20305C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.76C>G	ENSP00000388581.1:p.Pro26Ala
ENST00000700191.1:c.76C>G	ENSP00000514853.1:p.Pro26Ala
ENST00000700193.1:c.76C>G	ENSP00000514854.1:p.Pro26Ala
ENST00000700194.1:n.334C>G
ENST00000700208.1:c.76C>G	ENSP00000514860.1:p.Pro26Ala
ENST00000417098.6:c.76C>G MANE Select	ENSP00000401112.1:p.Pro26Ala
ENST00000260926.9:c.76C>G	ENSP00000260926.5:p.Pro26Ala
ENST00000417098.5:c.76C>G	ENSP00000401112.1:p.Pro26Ala
ENST00000428695.5:c.76C>G	ENSP00000388581.1:p.Pro26Ala
ENST00000440919.1:c.76C>G	ENSP00000415610.1:p.Pro26Ala
ENST00000443023.5:c.76C>G	ENSP00000388764.1:p.Pro26Ala
ENST00000457245.5:c.76C>G	ENSP00000405420.1:p.Pro26Ala
ENST00000614512.4:c.76C>G	ENSP00000483287.1:p.Pro26Ala
NM_001172509.1:c.76C>G	NP_001165980.1:p.Pro26Ala
NM_001172517.1:c.76C>G	NP_001165988.1:p.Pro26Ala
NM_015265.3:c.76C>G	NP_056080.1:p.Pro26Ala
XM_005246396.1:c.-6+4490C>G	XP_005246453.1:n.-6+4490C>G
XM_006712372.1:c.76C>G	XP_006712435.1:p.Pro26Ala
XM_011510840.1:c.76C>G	XP_011509142.1:p.Pro26Ala
NR_134967.1:n.893C>G
XM_005246396.3:c.-6+4490C>G	XP_005246453.1:n.-6+4490C>G
XM_011510840.3:c.76C>G	XP_011509142.1:p.Pro26Ala
XM_017003656.1:c.-6+4490C>G	XP_016859145.1:n.-6+4490C>G
NM_001172509.2:c.76C>G MANE Select	NP_001165980.1:p.Pro26Ala
NM_015265.4:c.76C>G	NP_056080.1:p.Pro26Ala
NR_134967.2:n.736C>G