Canonical Allele Identifier: CA2668691421

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713352-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713354_181713355del , CM000665.2:g.181713354_181713355del	GRCh38
NC_000003.11:g.181431142_181431143del , CM000665.1:g.181431142_181431143del	GRCh37
NC_000003.10:g.182913836_182913837del	NCBI36
NG_009080.1:g.6421_6422del , LRG_719:g.6421_6422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*40_*41del (SOX2) MANE Select	ENSP00000323588.1:n.*40_*41del
ENST00000325404.2:c.*40_*41del (SOX2)	ENSP00000323588.1:n.*40_*41del
NM_003106.3:c.*40_*41del (SOX2)	NP_003097.1:n.*40_*41del
NR_004053.3:n.768-1831_768-1830del (SOX2-OT)
NR_075089.1:n.767+13471_767+13472del (SOX2-OT)
NR_075090.1:n.482-26215_482-26214del (SOX2-OT)
NR_075091.1:n.783-1831_783-1830del (SOX2-OT)
NR_075092.1:n.782+13471_782+13472del (SOX2-OT)
NR_075093.1:n.473-26215_473-26214del (SOX2-OT)
NM_003106.4:c.*40_*41del (SOX2) MANE Select	NP_003097.1:n.*40_*41del