Canonical Allele Identifier: CA89241926

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs987704570
• gnomAD v2: 3-181431331-TGA-T
• gnomAD v3: 3-181713543-TGA-T
• gnomAD v4: 3-181713543-TGA-T
• MyVariant Identifiers: chr3:g.181431332_181431333del (hg19) ; chr3:g.181713544_181713545del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713550_181713551del , CM000665.2:g.181713550_181713551del	GRCh38
NC_000003.11:g.181431338_181431339del , CM000665.1:g.181431338_181431339del	GRCh37
NC_000003.10:g.182914032_182914033del	NCBI36
NG_009080.1:g.6617_6618del , LRG_719:g.6617_6618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*236_*237del (SOX2) MANE Select	ENSP00000323588.1:n.*236_*237del
ENST00000325404.2:c.*236_*237del (SOX2)	ENSP00000323588.1:n.*236_*237del
NM_003106.3:c.*236_*237del (SOX2)	NP_003097.1:n.*236_*237del
NR_004053.3:n.768-1635_768-1634del (SOX2-OT)
NR_075089.1:n.767+13667_767+13668del (SOX2-OT)
NR_075090.1:n.482-26019_482-26018del (SOX2-OT)
NR_075091.1:n.783-1635_783-1634del (SOX2-OT)
NR_075092.1:n.782+13667_782+13668del (SOX2-OT)
NR_075093.1:n.473-26019_473-26018del (SOX2-OT)
NM_003106.4:c.*236_*237del (SOX2) MANE Select	NP_003097.1:n.*236_*237del