Canonical Allele Identifier: CA2586973217
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712839_181712840dup , CM000665.2:g.181712839_181712840dup GRCh38
NC_000003.11:g.181430627_181430628dup , CM000665.1:g.181430627_181430628dup GRCh37
NC_000003.10:g.182913321_182913322dup NCBI36
NG_009080.1:g.5906_5907dup , LRG_719:g.5906_5907dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.479_480dup (SOX2) MANE Select ENSP00000323588.1:p.Ala161ThrfsTer4
ENST00000325404.2:c.479_480dup (SOX2) ENSP00000323588.1:p.Ala161ThrfsTer4
NM_003106.3:c.479_480dup (SOX2) NP_003097.1:p.Ala161ThrfsTer4
NR_004053.3:n.768-2346_768-2345dup (SOX2-OT)
NR_075089.1:n.767+12956_767+12957dup (SOX2-OT)
NR_075090.1:n.482-26730_482-26729dup (SOX2-OT)
NR_075091.1:n.783-2346_783-2345dup (SOX2-OT)
NR_075092.1:n.782+12956_782+12957dup (SOX2-OT)
NR_075093.1:n.473-26730_473-26729dup (SOX2-OT)
NM_003106.4:c.479_480dup (SOX2) MANE Select NP_003097.1:p.Ala161ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'