Canonical Allele Identifier: CA1057046802

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1714895216
• gnomAD v3: 3-181713502-ACACT-A
• gnomAD v4: 3-181713502-ACACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713506_181713509del , CM000665.2:g.181713506_181713509del	GRCh38
NC_000003.11:g.181431294_181431297del , CM000665.1:g.181431294_181431297del	GRCh37
NC_000003.10:g.182913988_182913991del	NCBI36
NG_009080.1:g.6573_6576del , LRG_719:g.6573_6576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*192_*195del (SOX2) MANE Select	ENSP00000323588.1:n.*192_*195del
ENST00000325404.2:c.*192_*195del (SOX2)	ENSP00000323588.1:n.*192_*195del
NM_003106.3:c.*192_*195del (SOX2)	NP_003097.1:n.*192_*195del
NR_004053.3:n.768-1679_768-1676del (SOX2-OT)
NR_075089.1:n.767+13623_767+13626del (SOX2-OT)
NR_075090.1:n.482-26063_482-26060del (SOX2-OT)
NR_075091.1:n.783-1679_783-1676del (SOX2-OT)
NR_075092.1:n.782+13623_782+13626del (SOX2-OT)
NR_075093.1:n.473-26063_473-26060del (SOX2-OT)
NM_003106.4:c.*192_*195del (SOX2) MANE Select	NP_003097.1:n.*192_*195del