Canonical Allele Identifier: CA355473889
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.181430594T>A (hg19) chr3:g.181712806T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712806T>A , CM000665.2:g.181712806T>A GRCh38
NC_000003.11:g.181430594T>A , CM000665.1:g.181430594T>A GRCh37
NC_000003.10:g.182913288T>A NCBI36
NG_009080.1:g.5873T>A , LRG_719:g.5873T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.446T>A (SOX2) MANE Select ENSP00000323588.1:p.Leu149Gln
ENST00000325404.2:c.446T>A (SOX2) ENSP00000323588.1:p.Leu149Gln
NM_003106.3:c.446T>A (SOX2) NP_003097.1:p.Leu149Gln
NR_004053.3:n.768-2379T>A (SOX2-OT)
NR_075089.1:n.767+12923T>A (SOX2-OT)
NR_075090.1:n.482-26763T>A (SOX2-OT)
NR_075091.1:n.783-2379T>A (SOX2-OT)
NR_075092.1:n.782+12923T>A (SOX2-OT)
NR_075093.1:n.473-26763T>A (SOX2-OT)
NM_003106.4:c.446T>A (SOX2) MANE Select NP_003097.1:p.Leu149Gln
Search 100 bp 5'
Search 100 bp 3'