Canonical Allele Identifier: CA2668691679

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713586-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713586_181713587insT , CM000665.2:g.181713586_181713587insT	GRCh38
NC_000003.11:g.181431374_181431375insT , CM000665.1:g.181431374_181431375insT	GRCh37
NC_000003.10:g.182914068_182914069insT	NCBI36
NG_009080.1:g.6653_6654insT , LRG_719:g.6653_6654insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*272_*273insT (SOX2) MANE Select	ENSP00000323588.1:n.*272_*273insT
ENST00000325404.2:c.*272_*273insT (SOX2)	ENSP00000323588.1:n.*272_*273insT
NM_003106.3:c.*272_*273insT (SOX2)	NP_003097.1:n.*272_*273insT
NR_004053.3:n.768-1599_768-1598insT (SOX2-OT)
NR_075089.1:n.767+13703_767+13704insT (SOX2-OT)
NR_075090.1:n.482-25983_482-25982insT (SOX2-OT)
NR_075091.1:n.783-1599_783-1598insT (SOX2-OT)
NR_075092.1:n.782+13703_782+13704insT (SOX2-OT)
NR_075093.1:n.473-25983_473-25982insT (SOX2-OT)
NM_003106.4:c.*272_*273insT (SOX2) MANE Select	NP_003097.1:n.*272_*273insT