Canonical Allele Identifier: CA1139658377

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713281_181713290del , CM000665.2:g.181713281_181713290del	GRCh38
NC_000003.11:g.181431069_181431078del , CM000665.1:g.181431069_181431078del	GRCh37
NC_000003.10:g.182913763_182913772del	NCBI36
NG_009080.1:g.6348_6357del , LRG_719:g.6348_6357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.921_930del (SOX2) MANE Select	ENSP00000323588.1:p.Ile308HisfsTer?
ENST00000325404.2:c.921_930del (SOX2)	ENSP00000323588.1:p.Ile308HisfsTer?
NM_003106.3:c.921_930del (SOX2)	NP_003097.1:p.Ile308HisfsTer?
NR_004053.3:n.768-1904_768-1895del (SOX2-OT)
NR_075089.1:n.767+13398_767+13407del (SOX2-OT)
NR_075090.1:n.482-26288_482-26279del (SOX2-OT)
NR_075091.1:n.783-1904_783-1895del (SOX2-OT)
NR_075092.1:n.782+13398_782+13407del (SOX2-OT)
NR_075093.1:n.473-26288_473-26279del (SOX2-OT)
NM_003106.4:c.921_930del (SOX2) MANE Select	NP_003097.1:p.Ile308HisfsTer?