Canonical Allele Identifier: CA2668691732

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713600-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713600_181713601insTT , CM000665.2:g.181713600_181713601insTT	GRCh38
NC_000003.11:g.181431388_181431389insTT , CM000665.1:g.181431388_181431389insTT	GRCh37
NC_000003.10:g.182914082_182914083insTT	NCBI36
NG_009080.1:g.6667_6668insTT , LRG_719:g.6667_6668insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*286_*287insTT (SOX2) MANE Select	ENSP00000323588.1:n.*286_*287insTT
ENST00000325404.2:c.*286_*287insTT (SOX2)	ENSP00000323588.1:n.*286_*287insTT
NM_003106.3:c.*286_*287insTT (SOX2)	NP_003097.1:n.*286_*287insTT
NR_004053.3:n.768-1585_768-1584insTT (SOX2-OT)
NR_075089.1:n.767+13717_767+13718insTT (SOX2-OT)
NR_075090.1:n.482-25969_482-25968insTT (SOX2-OT)
NR_075091.1:n.783-1585_783-1584insTT (SOX2-OT)
NR_075092.1:n.782+13717_782+13718insTT (SOX2-OT)
NR_075093.1:n.473-25969_473-25968insTT (SOX2-OT)
NM_003106.4:c.*286_*287insTT (SOX2) MANE Select	NP_003097.1:n.*286_*287insTT