Canonical Allele Identifier: CA89241864

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs913691993
• gnomAD v4: 3-181712342-GC-G
• MyVariant Identifiers: chr3:g.181430131del (hg19) ; chr3:g.181712343del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712345del , CM000665.2:g.181712345del	GRCh38
NC_000003.11:g.181430133del , CM000665.1:g.181430133del	GRCh37
NC_000003.10:g.182912827del	NCBI36
NG_009080.1:g.5412del , LRG_719:g.5412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.-16del (SOX2) MANE Select	ENSP00000323588.1:n.-16del
ENST00000325404.2:c.-16del (SOX2)	ENSP00000323588.1:n.-16del
NM_003106.3:c.-16del (SOX2)	NP_003097.1:n.-16del
NR_004053.3:n.768-2840del (SOX2-OT)
NR_075089.1:n.767+12462del (SOX2-OT)
NR_075090.1:n.482-27224del (SOX2-OT)
NR_075091.1:n.783-2840del (SOX2-OT)
NR_075092.1:n.782+12462del (SOX2-OT)
NR_075093.1:n.473-27224del (SOX2-OT)
NM_003106.4:c.-16del (SOX2) MANE Select	NP_003097.1:n.-16del