Canonical Allele Identifier: CA2668691354

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181712320-TCGGCGGCCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712327_181712336del , CM000665.2:g.181712327_181712336del	GRCh38
NC_000003.11:g.181430115_181430124del , CM000665.1:g.181430115_181430124del	GRCh37
NC_000003.10:g.182912809_182912818del	NCBI36
NG_009080.1:g.5394_5403del , LRG_719:g.5394_5403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.-34_-25del (SOX2) MANE Select	ENSP00000323588.1:n.-34_-25del
ENST00000325404.2:c.-34_-25del (SOX2)	ENSP00000323588.1:n.-34_-25del
NM_003106.3:c.-34_-25del (SOX2)	NP_003097.1:n.-34_-25del
NR_004053.3:n.768-2858_768-2849del (SOX2-OT)
NR_075089.1:n.767+12444_767+12453del (SOX2-OT)
NR_075090.1:n.482-27242_482-27233del (SOX2-OT)
NR_075091.1:n.783-2858_783-2849del (SOX2-OT)
NR_075092.1:n.782+12444_782+12453del (SOX2-OT)
NR_075093.1:n.473-27242_473-27233del (SOX2-OT)
NM_003106.4:c.-34_-25del (SOX2) MANE Select	NP_003097.1:n.-34_-25del