Canonical Allele Identifier: CA1424780367
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713302C= , CM000665.2:g.181713302C= GRCh38
NC_000003.11:g.181431090C= , CM000665.1:g.181431090C= GRCh37
NC_000003.10:g.182913784C= NCBI36
NG_009080.1:g.6369C= , LRG_719:g.6369C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.942C= (SOX2) MANE Select ENSP00000323588.1:p.Leu314=
ENST00000325404.2:c.942C= (SOX2) ENSP00000323588.1:p.Leu314=
NM_003106.3:c.942C= (SOX2) NP_003097.1:p.Leu314=
NR_004053.3:n.768-1883C= (SOX2-OT)
NR_075089.1:n.767+13419C= (SOX2-OT)
NR_075090.1:n.482-26267C= (SOX2-OT)
NR_075091.1:n.783-1883C= (SOX2-OT)
NR_075092.1:n.782+13419C= (SOX2-OT)
NR_075093.1:n.473-26267C= (SOX2-OT)
NM_003106.4:c.942C= (SOX2) MANE Select NP_003097.1:p.Leu314=