Canonical Allele Identifier: CA2668691642

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713576-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713576_181713577insATT , CM000665.2:g.181713576_181713577insATT	GRCh38
NC_000003.11:g.181431364_181431365insATT , CM000665.1:g.181431364_181431365insATT	GRCh37
NC_000003.10:g.182914058_182914059insATT	NCBI36
NG_009080.1:g.6643_6644insATT , LRG_719:g.6643_6644insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*262_*263insATT (SOX2) MANE Select	ENSP00000323588.1:n.*262_*263insATT
ENST00000325404.2:c.*262_*263insATT (SOX2)	ENSP00000323588.1:n.*262_*263insATT
NM_003106.3:c.*262_*263insATT (SOX2)	NP_003097.1:n.*262_*263insATT
NR_004053.3:n.768-1609_768-1608insATT (SOX2-OT)
NR_075089.1:n.767+13693_767+13694insATT (SOX2-OT)
NR_075090.1:n.482-25993_482-25992insATT (SOX2-OT)
NR_075091.1:n.783-1609_783-1608insATT (SOX2-OT)
NR_075092.1:n.782+13693_782+13694insATT (SOX2-OT)
NR_075093.1:n.473-25993_473-25992insATT (SOX2-OT)
NM_003106.4:c.*262_*263insATT (SOX2) MANE Select	NP_003097.1:n.*262_*263insATT