Canonical Allele Identifier: CA2668691429

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713373-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713376_181713377dup , CM000665.2:g.181713376_181713377dup	GRCh38
NC_000003.11:g.181431164_181431165dup , CM000665.1:g.181431164_181431165dup	GRCh37
NC_000003.10:g.182913858_182913859dup	NCBI36
NG_009080.1:g.6443_6444dup , LRG_719:g.6443_6444dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*62_*63dup (SOX2) MANE Select	ENSP00000323588.1:n.*62_*63dup
ENST00000325404.2:c.*62_*63dup (SOX2)	ENSP00000323588.1:n.*62_*63dup
NM_003106.3:c.*62_*63dup (SOX2)	NP_003097.1:n.*62_*63dup
NR_004053.3:n.768-1809_768-1808dup (SOX2-OT)
NR_075089.1:n.767+13493_767+13494dup (SOX2-OT)
NR_075090.1:n.482-26193_482-26192dup (SOX2-OT)
NR_075091.1:n.783-1809_783-1808dup (SOX2-OT)
NR_075092.1:n.782+13493_782+13494dup (SOX2-OT)
NR_075093.1:n.473-26193_473-26192dup (SOX2-OT)
NM_003106.4:c.*62_*63dup (SOX2) MANE Select	NP_003097.1:n.*62_*63dup