Canonical Allele Identifier: CA355473231
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.181430297T>A (hg19) chr3:g.181712509T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712509T>A , CM000665.2:g.181712509T>A GRCh38
NC_000003.11:g.181430297T>A , CM000665.1:g.181430297T>A GRCh37
NC_000003.10:g.182912991T>A NCBI36
NG_009080.1:g.5576T>A , LRG_719:g.5576T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.149T>A (SOX2) MANE Select ENSP00000323588.1:p.Val50Glu
ENST00000325404.2:c.149T>A (SOX2) ENSP00000323588.1:p.Val50Glu
NM_003106.3:c.149T>A (SOX2) NP_003097.1:p.Val50Glu
NR_004053.3:n.768-2676T>A (SOX2-OT)
NR_075089.1:n.767+12626T>A (SOX2-OT)
NR_075090.1:n.482-27060T>A (SOX2-OT)
NR_075091.1:n.783-2676T>A (SOX2-OT)
NR_075092.1:n.782+12626T>A (SOX2-OT)
NR_075093.1:n.473-27060T>A (SOX2-OT)
NM_003106.4:c.149T>A (SOX2) MANE Select NP_003097.1:p.Val50Glu
Search 100 bp 5'
Search 100 bp 3'