Canonical Allele Identifier: CA355473878
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs2108522528

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712799G>A , CM000665.2:g.181712799G>A GRCh38
NC_000003.11:g.181430587G>A , CM000665.1:g.181430587G>A GRCh37
NC_000003.10:g.182913281G>A NCBI36
NG_009080.1:g.5866G>A , LRG_719:g.5866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.439G>A (SOX2) MANE Select ENSP00000323588.1:p.Ala147Thr
ENST00000325404.2:c.439G>A (SOX2) ENSP00000323588.1:p.Ala147Thr
NM_003106.3:c.439G>A (SOX2) NP_003097.1:p.Ala147Thr
NR_004053.3:n.768-2386G>A (SOX2-OT)
NR_075089.1:n.767+12916G>A (SOX2-OT)
NR_075090.1:n.482-26770G>A (SOX2-OT)
NR_075091.1:n.783-2386G>A (SOX2-OT)
NR_075092.1:n.782+12916G>A (SOX2-OT)
NR_075093.1:n.473-26770G>A (SOX2-OT)
NM_003106.4:c.439G>A (SOX2) MANE Select NP_003097.1:p.Ala147Thr