Canonical Allele Identifier: CA903520815

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1317669778
• gnomAD v3: 3-181713710-CAA-C
• gnomAD v4: 3-181713710-CAA-C
• MyVariant Identifiers: chr3:g.181431499_181431500del (hg19) ; chr3:g.181713711_181713712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713713_181713714del , CM000665.2:g.181713713_181713714del	GRCh38
NC_000003.11:g.181431501_181431502del , CM000665.1:g.181431501_181431502del	GRCh37
NC_000003.10:g.182914195_182914196del	NCBI36
NG_009080.1:g.6780_6781del , LRG_719:g.6780_6781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.*399_*400del (SOX2) MANE Select	ENSP00000323588.1:n.*399_*400del
ENST00000325404.2:c.*399_*400del (SOX2)	ENSP00000323588.1:n.*399_*400del
NM_003106.3:c.*399_*400del (SOX2)	NP_003097.1:n.*399_*400del
NR_004053.3:n.768-1472_768-1471del (SOX2-OT)
NR_075089.1:n.767+13830_767+13831del (SOX2-OT)
NR_075090.1:n.482-25856_482-25855del (SOX2-OT)
NR_075091.1:n.783-1472_783-1471del (SOX2-OT)
NR_075092.1:n.782+13830_782+13831del (SOX2-OT)
NR_075093.1:n.473-25856_473-25855del (SOX2-OT)
NM_003106.4:c.*399_*400del (SOX2) MANE Select	NP_003097.1:n.*399_*400del