Canonical Allele Identifier: CA355473076
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.181430228C>A (hg19) chr3:g.181712440C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712440C>A , CM000665.2:g.181712440C>A GRCh38
NC_000003.11:g.181430228C>A , CM000665.1:g.181430228C>A GRCh37
NC_000003.10:g.182912922C>A NCBI36
NG_009080.1:g.5507C>A , LRG_719:g.5507C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.80C>A (SOX2) MANE Select ENSP00000323588.1:p.Ala27Glu
ENST00000325404.2:c.80C>A (SOX2) ENSP00000323588.1:p.Ala27Glu
NM_003106.3:c.80C>A (SOX2) NP_003097.1:p.Ala27Glu
NR_004053.3:n.768-2745C>A (SOX2-OT)
NR_075089.1:n.767+12557C>A (SOX2-OT)
NR_075090.1:n.482-27129C>A (SOX2-OT)
NR_075091.1:n.783-2745C>A (SOX2-OT)
NR_075092.1:n.782+12557C>A (SOX2-OT)
NR_075093.1:n.473-27129C>A (SOX2-OT)
NM_003106.4:c.80C>A (SOX2) MANE Select NP_003097.1:p.Ala27Glu
Search 100 bp 5'
Search 100 bp 3'