Canonical Allele Identifier: CA2586973205

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712498_181712500dup , CM000665.2:g.181712498_181712500dup	GRCh38
NC_000003.11:g.181430286_181430288dup , CM000665.1:g.181430286_181430288dup	GRCh37
NC_000003.10:g.182912980_182912982dup	NCBI36
NG_009080.1:g.5565_5567dup , LRG_719:g.5565_5567dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.138_140dup (SOX2) MANE Select	ENSP00000323588.1:p.Ala47_Phe48insAla
ENST00000325404.2:c.138_140dup (SOX2)	ENSP00000323588.1:p.Ala47_Phe48insAla
NM_003106.3:c.138_140dup (SOX2)	NP_003097.1:p.Ala47_Phe48insAla
NR_004053.3:n.768-2687_768-2685dup (SOX2-OT)
NR_075089.1:n.767+12615_767+12617dup (SOX2-OT)
NR_075090.1:n.482-27071_482-27069dup (SOX2-OT)
NR_075091.1:n.783-2687_783-2685dup (SOX2-OT)
NR_075092.1:n.782+12615_782+12617dup (SOX2-OT)
NR_075093.1:n.473-27071_473-27069dup (SOX2-OT)
NM_003106.4:c.138_140dup (SOX2) MANE Select	NP_003097.1:p.Ala47_Phe48insAla