Canonical Allele Identifier: CA2668691606

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713553-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713553_181713554insT , CM000665.2:g.181713553_181713554insT	GRCh38
NC_000003.11:g.181431341_181431342insT , CM000665.1:g.181431341_181431342insT	GRCh37
NC_000003.10:g.182914035_182914036insT	NCBI36
NG_009080.1:g.6620_6621insT , LRG_719:g.6620_6621insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*239_*240insT (SOX2) MANE Select	ENSP00000323588.1:n.*239_*240insT
ENST00000325404.2:c.*239_*240insT (SOX2)	ENSP00000323588.1:n.*239_*240insT
NM_003106.3:c.*239_*240insT (SOX2)	NP_003097.1:n.*239_*240insT
NR_004053.3:n.768-1632_768-1631insT (SOX2-OT)
NR_075089.1:n.767+13670_767+13671insT (SOX2-OT)
NR_075090.1:n.482-26016_482-26015insT (SOX2-OT)
NR_075091.1:n.783-1632_783-1631insT (SOX2-OT)
NR_075092.1:n.782+13670_782+13671insT (SOX2-OT)
NR_075093.1:n.473-26016_473-26015insT (SOX2-OT)
NM_003106.4:c.*239_*240insT (SOX2) MANE Select	NP_003097.1:n.*239_*240insT