Canonical Allele Identifier: CA2668691644

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713576-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713580_181713581dup , CM000665.2:g.181713580_181713581dup	GRCh38
NC_000003.11:g.181431368_181431369dup , CM000665.1:g.181431368_181431369dup	GRCh37
NC_000003.10:g.182914062_182914063dup	NCBI36
NG_009080.1:g.6647_6648dup , LRG_719:g.6647_6648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*266_*267dup (SOX2) MANE Select	ENSP00000323588.1:n.*266_*267dup
ENST00000325404.2:c.*266_*267dup (SOX2)	ENSP00000323588.1:n.*266_*267dup
NM_003106.3:c.*266_*267dup (SOX2)	NP_003097.1:n.*266_*267dup
NR_004053.3:n.768-1605_768-1604dup (SOX2-OT)
NR_075089.1:n.767+13697_767+13698dup (SOX2-OT)
NR_075090.1:n.482-25989_482-25988dup (SOX2-OT)
NR_075091.1:n.783-1605_783-1604dup (SOX2-OT)
NR_075092.1:n.782+13697_782+13698dup (SOX2-OT)
NR_075093.1:n.473-25989_473-25988dup (SOX2-OT)
NM_003106.4:c.*266_*267dup (SOX2) MANE Select	NP_003097.1:n.*266_*267dup