Canonical Allele Identifier: CA2668691757

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713605-T-TGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713607_181713609dup , CM000665.2:g.181713607_181713609dup	GRCh38
NC_000003.11:g.181431395_181431397dup , CM000665.1:g.181431395_181431397dup	GRCh37
NC_000003.10:g.182914089_182914091dup	NCBI36
NG_009080.1:g.6674_6676dup , LRG_719:g.6674_6676dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*293_*295dup (SOX2) MANE Select	ENSP00000323588.1:n.*293_*295dup
ENST00000325404.2:c.*293_*295dup (SOX2)	ENSP00000323588.1:n.*293_*295dup
NM_003106.3:c.*293_*295dup (SOX2)	NP_003097.1:n.*293_*295dup
NR_004053.3:n.768-1578_768-1576dup (SOX2-OT)
NR_075089.1:n.767+13724_767+13726dup (SOX2-OT)
NR_075090.1:n.482-25962_482-25960dup (SOX2-OT)
NR_075091.1:n.783-1578_783-1576dup (SOX2-OT)
NR_075092.1:n.782+13724_782+13726dup (SOX2-OT)
NR_075093.1:n.473-25962_473-25960dup (SOX2-OT)
NM_003106.4:c.*293_*295dup (SOX2) MANE Select	NP_003097.1:n.*293_*295dup