Canonical Allele Identifier: CA2577968216
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

gnomAD v4: 3-181712422-GCGGCGGCAACTCCACCGCGGCGGCGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712433_181712459del , CM000665.2:g.181712433_181712459del GRCh38
NC_000003.11:g.181430221_181430247del , CM000665.1:g.181430221_181430247del GRCh37
NC_000003.10:g.182912915_182912941del NCBI36
NG_009080.1:g.5500_5526del , LRG_719:g.5500_5526del

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.73_99del (SOX2) MANE Select ENSP00000323588.1:p.Ser25_Asn33del
ENST00000325404.2:c.73_99del (SOX2) ENSP00000323588.1:p.Ser25_Asn33del
NM_003106.3:c.73_99del (SOX2) NP_003097.1:p.Ser25_Asn33del
NR_004053.3:n.768-2752_768-2726del (SOX2-OT)
NR_075089.1:n.767+12550_767+12576del (SOX2-OT)
NR_075090.1:n.482-27136_482-27110del (SOX2-OT)
NR_075091.1:n.783-2752_783-2726del (SOX2-OT)
NR_075092.1:n.782+12550_782+12576del (SOX2-OT)
NR_075093.1:n.473-27136_473-27110del (SOX2-OT)
NM_003106.4:c.73_99del (SOX2) MANE Select NP_003097.1:p.Ser25_Asn33del
Search 100 bp 5'
Search 100 bp 3'