Canonical Allele Identifier: CA2668691660

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713583-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713583_181713584insCC , CM000665.2:g.181713583_181713584insCC	GRCh38
NC_000003.11:g.181431371_181431372insCC , CM000665.1:g.181431371_181431372insCC	GRCh37
NC_000003.10:g.182914065_182914066insCC	NCBI36
NG_009080.1:g.6650_6651insCC , LRG_719:g.6650_6651insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*269_*270insCC (SOX2) MANE Select	ENSP00000323588.1:n.*269_*270insCC
ENST00000325404.2:c.*269_*270insCC (SOX2)	ENSP00000323588.1:n.*269_*270insCC
NM_003106.3:c.*269_*270insCC (SOX2)	NP_003097.1:n.*269_*270insCC
NR_004053.3:n.768-1602_768-1601insCC (SOX2-OT)
NR_075089.1:n.767+13700_767+13701insCC (SOX2-OT)
NR_075090.1:n.482-25986_482-25985insCC (SOX2-OT)
NR_075091.1:n.783-1602_783-1601insCC (SOX2-OT)
NR_075092.1:n.782+13700_782+13701insCC (SOX2-OT)
NR_075093.1:n.473-25986_473-25985insCC (SOX2-OT)
NM_003106.4:c.*269_*270insCC (SOX2) MANE Select	NP_003097.1:n.*269_*270insCC