Canonical Allele Identifier: CA350386538

Gene: SATB2

Linked Data

• MyVariant Identifiers: chr2:g.200193607C>G (hg19) ; chr2:g.199328884C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199328884C>G , CM000664.2:g.199328884C>G	GRCh38
NC_000002.11:g.200193607C>G , CM000664.1:g.200193607C>G	GRCh37
NC_000002.10:g.199901852C>G	NCBI36
NG_016976.1:g.147383G>C
NG_016976.2:g.147383G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.846G>C	ENSP00000388581.1:p.Lys282Asn
ENST00000700191.1:c.846G>C	ENSP00000514853.1:p.Lys282Asn
ENST00000700192.1:n.150G>C
ENST00000700193.1:c.1200G>C	ENSP00000514854.1:p.Lys400Asn
ENST00000700207.1:n.108G>C
ENST00000700208.1:c.347-56212G>C	ENSP00000514860.1:n.347-56212G>C
ENST00000700209.1:n.145G>C
ENST00000700210.1:c.854G>C
ENST00000417098.6:c.1200G>C MANE Select	ENSP00000401112.1:p.Lys400Asn
ENST00000260926.9:c.1200G>C	ENSP00000260926.5:p.Lys400Asn
ENST00000417098.5:c.1200G>C	ENSP00000401112.1:p.Lys400Asn
ENST00000428695.5:c.846G>C	ENSP00000388581.1:p.Lys282Asn
ENST00000443023.5:c.1023G>C	ENSP00000388764.1:p.Lys341Asn
ENST00000457245.5:c.1200G>C	ENSP00000405420.1:p.Lys400Asn
ENST00000473517.1:n.152G>C
ENST00000614512.4:c.846G>C	ENSP00000483287.1:p.Lys282Asn
NM_001172509.1:c.1200G>C	NP_001165980.1:p.Lys400Asn
NM_001172517.1:c.1200G>C	NP_001165988.1:p.Lys400Asn
NM_015265.3:c.1200G>C	NP_056080.1:p.Lys400Asn
XM_005246396.1:c.1026G>C	XP_005246453.1:p.Lys342Asn
XM_006712372.1:c.1200G>C	XP_006712435.1:p.Lys400Asn
XM_011510840.1:c.1200G>C	XP_011509142.1:p.Lys400Asn
XM_005246396.3:c.1026G>C	XP_005246453.1:p.Lys342Asn
XM_011510840.3:c.1200G>C	XP_011509142.1:p.Lys400Asn
XM_017003656.1:c.1026G>C	XP_016859145.1:p.Lys342Asn
XM_024452767.1:c.777G>C	XP_024308535.1:p.Lys259Asn
XM_024452768.1:c.777G>C	XP_024308536.1:p.Lys259Asn
NM_001172509.2:c.1200G>C MANE Select	NP_001165980.1:p.Lys400Asn
NM_015265.4:c.1200G>C	NP_056080.1:p.Lys400Asn