Canonical Allele Identifier: CA2668691403
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

gnomAD v4: 3-181712425-GCGGCAACTCCACCGCGGCGGCGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712430_181712453del , CM000665.2:g.181712430_181712453del GRCh38
NC_000003.11:g.181430218_181430241del , CM000665.1:g.181430218_181430241del GRCh37
NC_000003.10:g.182912912_182912935del NCBI36
NG_009080.1:g.5497_5520del , LRG_719:g.5497_5520del

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.70_93del (SOX2) MANE Select ENSP00000323588.1:p.Asn24_Gly31del
ENST00000325404.2:c.70_93del (SOX2) ENSP00000323588.1:p.Asn24_Gly31del
NM_003106.3:c.70_93del (SOX2) NP_003097.1:p.Asn24_Gly31del
NR_004053.3:n.768-2755_768-2732del (SOX2-OT)
NR_075089.1:n.767+12547_767+12570del (SOX2-OT)
NR_075090.1:n.482-27139_482-27116del (SOX2-OT)
NR_075091.1:n.783-2755_783-2732del (SOX2-OT)
NR_075092.1:n.782+12547_782+12570del (SOX2-OT)
NR_075093.1:n.473-27139_473-27116del (SOX2-OT)
NM_003106.4:c.70_93del (SOX2) MANE Select NP_003097.1:p.Asn24_Gly31del
Search 100 bp 5'
Search 100 bp 3'