Canonical Allele Identifier: CA16617414
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423831
ClinVar RCV Id: RCV000479021
dbSNP Id: rs1064796649
MyVariant Identifiers: chr2:g.200298222A>T (hg19) chr2:g.199433499A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199433499A>T , CM000664.2:g.199433499A>T GRCh38
NC_000002.11:g.200298222A>T , CM000664.1:g.200298222A>T GRCh37
NC_000002.10:g.200006467A>T NCBI36
NG_016976.1:g.42768T>A
NG_016976.2:g.42768T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000428695.6:c.185T>A ENSP00000388581.1:p.Val62Asp
ENST00000700191.1:c.185T>A ENSP00000514853.1:p.Val62Asp
ENST00000700193.1:c.185T>A ENSP00000514854.1:p.Val62Asp
ENST00000700194.1:n.443T>A
ENST00000700208.1:c.185T>A ENSP00000514860.1:p.Val62Asp
ENST00000417098.6:c.185T>A MANE Select ENSP00000401112.1:p.Val62Asp
ENST00000260926.9:c.185T>A ENSP00000260926.5:p.Val62Asp
ENST00000417098.5:c.185T>A ENSP00000401112.1:p.Val62Asp
ENST00000428695.5:c.185T>A ENSP00000388581.1:p.Val62Asp
ENST00000440919.1:c.185T>A ENSP00000415610.1:p.Val62Asp
ENST00000443023.5:c.169+22370T>A ENSP00000388764.1:n.169+22370T>A
ENST00000457245.5:c.185T>A ENSP00000405420.1:p.Val62Asp
ENST00000614512.4:c.185T>A ENSP00000483287.1:p.Val62Asp
NM_001172509.1:c.185T>A NP_001165980.1:p.Val62Asp
NM_001172517.1:c.185T>A NP_001165988.1:p.Val62Asp
NM_015265.3:c.185T>A NP_056080.1:p.Val62Asp
XM_005246396.1:c.11T>A XP_005246453.1:p.Val4Asp
XM_006712372.1:c.185T>A XP_006712435.1:p.Val62Asp
XM_011510840.1:c.185T>A XP_011509142.1:p.Val62Asp
NR_134967.1:n.1002T>A
XM_005246396.3:c.11T>A XP_005246453.1:p.Val4Asp
XM_011510840.3:c.185T>A XP_011509142.1:p.Val62Asp
XM_017003656.1:c.11T>A XP_016859145.1:p.Val4Asp
NM_001172509.2:c.185T>A MANE Select NP_001165980.1:p.Val62Asp
NM_015265.4:c.185T>A NP_056080.1:p.Val62Asp
NR_134967.2:n.845T>A
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