Canonical Allele Identifier: CA16617413
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421610
ClinVar RCV Id: RCV000485845
dbSNP Id: rs1064795247
MyVariant Identifiers: chr2:g.200298120A>C (hg19) chr2:g.199433397A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199433397A>C , CM000664.2:g.199433397A>C GRCh38
NC_000002.11:g.200298120A>C , CM000664.1:g.200298120A>C GRCh37
NC_000002.10:g.200006365A>C NCBI36
NG_016976.1:g.42870T>G
NG_016976.2:g.42870T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000428695.6:c.287T>G ENSP00000388581.1:p.Leu96Arg
ENST00000700191.1:c.287T>G ENSP00000514853.1:p.Leu96Arg
ENST00000700193.1:c.287T>G ENSP00000514854.1:p.Leu96Arg
ENST00000700194.1:n.545T>G
ENST00000700208.1:c.287T>G ENSP00000514860.1:p.Leu96Arg
ENST00000417098.6:c.287T>G MANE Select ENSP00000401112.1:p.Leu96Arg
ENST00000260926.9:c.287T>G ENSP00000260926.5:p.Leu96Arg
ENST00000417098.5:c.287T>G ENSP00000401112.1:p.Leu96Arg
ENST00000428695.5:c.287T>G ENSP00000388581.1:p.Leu96Arg
ENST00000440919.1:c.287T>G ENSP00000415610.1:p.Leu96Arg
ENST00000443023.5:c.169+22472T>G ENSP00000388764.1:n.169+22472T>G
ENST00000457245.5:c.287T>G ENSP00000405420.1:p.Leu96Arg
ENST00000614512.4:c.287T>G ENSP00000483287.1:p.Leu96Arg
NM_001172509.1:c.287T>G NP_001165980.1:p.Leu96Arg
NM_001172517.1:c.287T>G NP_001165988.1:p.Leu96Arg
NM_015265.3:c.287T>G NP_056080.1:p.Leu96Arg
XM_005246396.1:c.113T>G XP_005246453.1:p.Leu38Arg
XM_006712372.1:c.287T>G XP_006712435.1:p.Leu96Arg
XM_011510840.1:c.287T>G XP_011509142.1:p.Leu96Arg
NR_134967.1:n.1104T>G
XM_005246396.3:c.113T>G XP_005246453.1:p.Leu38Arg
XM_011510840.3:c.287T>G XP_011509142.1:p.Leu96Arg
XM_017003656.1:c.113T>G XP_016859145.1:p.Leu38Arg
XM_024452767.1:c.-347T>G XP_024308535.1:n.-347T>G
NM_001172509.2:c.287T>G MANE Select NP_001165980.1:p.Leu96Arg
NM_015265.4:c.287T>G NP_056080.1:p.Leu96Arg
NR_134967.2:n.947T>G
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