Canonical Allele Identifier: CA645527633

Gene: SOX2 SOX2-OT

Linked Data

• COSMIC: COSM4748127

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713118del , CM000665.2:g.181713118del	GRCh38
NC_000003.11:g.181430906del , CM000665.1:g.181430906del	GRCh37
NC_000003.10:g.182913600del	NCBI36
NG_009080.1:g.6185del , LRG_719:g.6185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.758del (SOX2) MANE Select	ENSP00000323588.1:p.Pro253LeufsTer21
ENST00000325404.2:c.758del (SOX2)	ENSP00000323588.1:p.Pro253LeufsTer21
NM_003106.3:c.758del (SOX2)	NP_003097.1:p.Pro253LeufsTer21
NR_004053.3:n.768-2067del (SOX2-OT)
NR_075089.1:n.767+13235del (SOX2-OT)
NR_075090.1:n.482-26451del (SOX2-OT)
NR_075091.1:n.783-2067del (SOX2-OT)
NR_075092.1:n.782+13235del (SOX2-OT)
NR_075093.1:n.473-26451del (SOX2-OT)
NM_003106.4:c.758del (SOX2) MANE Select	NP_003097.1:p.Pro253LeufsTer21