Canonical Allele Identifier: CA2668691410

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181712830-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712832del , CM000665.2:g.181712832del	GRCh38
NC_000003.11:g.181430620del , CM000665.1:g.181430620del	GRCh37
NC_000003.10:g.182913314del	NCBI36
NG_009080.1:g.5899del , LRG_719:g.5899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.472del (SOX2) MANE Select	ENSP00000323588.1:p.Asp158ThrfsTer6
ENST00000325404.2:c.472del (SOX2)	ENSP00000323588.1:p.Asp158ThrfsTer6
NM_003106.3:c.472del (SOX2)	NP_003097.1:p.Asp158ThrfsTer6
NR_004053.3:n.768-2353del (SOX2-OT)
NR_075089.1:n.767+12949del (SOX2-OT)
NR_075090.1:n.482-26737del (SOX2-OT)
NR_075091.1:n.783-2353del (SOX2-OT)
NR_075092.1:n.782+12949del (SOX2-OT)
NR_075093.1:n.473-26737del (SOX2-OT)
NM_003106.4:c.472del (SOX2) MANE Select	NP_003097.1:p.Asp158ThrfsTer6