Canonical Allele Identifier: CA2573136739

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712897_181712898insGGGTA , CM000665.2:g.181712897_181712898insGGGTA	GRCh38
NC_000003.11:g.181430685_181430686insGGGTA , CM000665.1:g.181430685_181430686insGGGTA	GRCh37
NC_000003.10:g.182913379_182913380insGGGTA	NCBI36
NG_009080.1:g.5964_5965insGGGTA , LRG_719:g.5964_5965insGGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.537_538insGGGTA (SOX2) MANE Select	ENSP00000323588.1:p.Tyr180GlyfsTer25
ENST00000325404.2:c.537_538insGGGTA (SOX2)	ENSP00000323588.1:p.Tyr180GlyfsTer25
NM_003106.3:c.537_538insGGGTA (SOX2)	NP_003097.1:p.Tyr180GlyfsTer25
NR_004053.3:n.768-2288_768-2287insGGGTA (SOX2-OT)
NR_075089.1:n.767+13014_767+13015insGGGTA (SOX2-OT)
NR_075090.1:n.482-26672_482-26671insGGGTA (SOX2-OT)
NR_075091.1:n.783-2288_783-2287insGGGTA (SOX2-OT)
NR_075092.1:n.782+13014_782+13015insGGGTA (SOX2-OT)
NR_075093.1:n.473-26672_473-26671insGGGTA (SOX2-OT)
NM_003106.4:c.537_538insGGGTA (SOX2) MANE Select	NP_003097.1:p.Tyr180GlyfsTer25