Canonical Allele Identifier: CA2668691920
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

gnomAD v4: 3-181713793-GTATT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713797_181713800del , CM000665.2:g.181713797_181713800del GRCh38
NC_000003.11:g.181431585_181431588del , CM000665.1:g.181431585_181431588del GRCh37
NC_000003.10:g.182914279_182914282del NCBI36
NG_009080.1:g.6864_6867del , LRG_719:g.6864_6867del

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*483_*486del (SOX2) MANE Select ENSP00000323588.1:n.*483_*486del
ENST00000325404.2:c.*483_*486del (SOX2) ENSP00000323588.1:n.*483_*486del
NM_003106.3:c.*483_*486del (SOX2) NP_003097.1:n.*483_*486del
NR_004053.3:n.768-1388_768-1385del (SOX2-OT)
NR_075089.1:n.767+13914_767+13917del (SOX2-OT)
NR_075090.1:n.482-25772_482-25769del (SOX2-OT)
NR_075091.1:n.783-1388_783-1385del (SOX2-OT)
NR_075092.1:n.782+13914_782+13917del (SOX2-OT)
NR_075093.1:n.473-25772_473-25769del (SOX2-OT)
NM_003106.4:c.*483_*486del (SOX2) MANE Select NP_003097.1:n.*483_*486del
Search 100 bp 5'
Search 100 bp 3'