Canonical Allele Identifier: CA2668691608

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713554-CTGGACTTCTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713555_181713567del , CM000665.2:g.181713555_181713567del	GRCh38
NC_000003.11:g.181431343_181431355del , CM000665.1:g.181431343_181431355del	GRCh37
NC_000003.10:g.182914037_182914049del	NCBI36
NG_009080.1:g.6622_6634del , LRG_719:g.6622_6634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*241_*253del (SOX2) MANE Select	ENSP00000323588.1:n.*241_*253del
ENST00000325404.2:c.*241_*253del (SOX2)	ENSP00000323588.1:n.*241_*253del
NM_003106.3:c.*241_*253del (SOX2)	NP_003097.1:n.*241_*253del
NR_004053.3:n.768-1630_768-1618del (SOX2-OT)
NR_075089.1:n.767+13672_767+13684del (SOX2-OT)
NR_075090.1:n.482-26014_482-26002del (SOX2-OT)
NR_075091.1:n.783-1630_783-1618del (SOX2-OT)
NR_075092.1:n.782+13672_782+13684del (SOX2-OT)
NR_075093.1:n.473-26014_473-26002del (SOX2-OT)
NM_003106.4:c.*241_*253del (SOX2) MANE Select	NP_003097.1:n.*241_*253del