Canonical Allele Identifier: CA2586973204
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712427_181712449del , CM000665.2:g.181712427_181712449del GRCh38
NC_000003.11:g.181430215_181430237del , CM000665.1:g.181430215_181430237del GRCh37
NC_000003.10:g.182912909_182912931del NCBI36
NG_009080.1:g.5494_5516del , LRG_719:g.5494_5516del

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.67_89del (SOX2) MANE Select ENSP00000323588.1:p.Gly23ArgfsTer?
ENST00000325404.2:c.67_89del (SOX2) ENSP00000323588.1:p.Gly23ArgfsTer?
NM_003106.3:c.67_89del (SOX2) NP_003097.1:p.Gly23ArgfsTer?
NR_004053.3:n.768-2758_768-2736del (SOX2-OT)
NR_075089.1:n.767+12544_767+12566del (SOX2-OT)
NR_075090.1:n.482-27142_482-27120del (SOX2-OT)
NR_075091.1:n.783-2758_783-2736del (SOX2-OT)
NR_075092.1:n.782+12544_782+12566del (SOX2-OT)
NR_075093.1:n.473-27142_473-27120del (SOX2-OT)
NM_003106.4:c.67_89del (SOX2) MANE Select NP_003097.1:p.Gly23ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'