Canonical Allele Identifier: CA2668691464

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713420-ACGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713422_181713425del , CM000665.2:g.181713422_181713425del	GRCh38
NC_000003.11:g.181431210_181431213del , CM000665.1:g.181431210_181431213del	GRCh37
NC_000003.10:g.182913904_182913907del	NCBI36
NG_009080.1:g.6489_6492del , LRG_719:g.6489_6492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*108_*111del (SOX2) MANE Select	ENSP00000323588.1:n.*108_*111del
ENST00000325404.2:c.*108_*111del (SOX2)	ENSP00000323588.1:n.*108_*111del
NM_003106.3:c.*108_*111del (SOX2)	NP_003097.1:n.*108_*111del
NR_004053.3:n.768-1763_768-1760del (SOX2-OT)
NR_075089.1:n.767+13539_767+13542del (SOX2-OT)
NR_075090.1:n.482-26147_482-26144del (SOX2-OT)
NR_075091.1:n.783-1763_783-1760del (SOX2-OT)
NR_075092.1:n.782+13539_782+13542del (SOX2-OT)
NR_075093.1:n.473-26147_473-26144del (SOX2-OT)
NM_003106.4:c.*108_*111del (SOX2) MANE Select	NP_003097.1:n.*108_*111del