Canonical Allele Identifier: CA1424779788
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712973C= , CM000665.2:g.181712973C= GRCh38
NC_000003.11:g.181430761C= , CM000665.1:g.181430761C= GRCh37
NC_000003.10:g.182913455C= NCBI36
NG_009080.1:g.6040C= , LRG_719:g.6040C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.613C= (SOX2) MANE Select ENSP00000323588.1:p.Leu205=
ENST00000325404.2:c.613C= (SOX2) ENSP00000323588.1:p.Leu205=
NM_003106.3:c.613C= (SOX2) NP_003097.1:p.Leu205=
NR_004053.3:n.768-2212C= (SOX2-OT)
NR_075089.1:n.767+13090C= (SOX2-OT)
NR_075090.1:n.482-26596C= (SOX2-OT)
NR_075091.1:n.783-2212C= (SOX2-OT)
NR_075092.1:n.782+13090C= (SOX2-OT)
NR_075093.1:n.473-26596C= (SOX2-OT)
NM_003106.4:c.613C= (SOX2) MANE Select NP_003097.1:p.Leu205=