Canonical Allele Identifier: CA2545517309
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713716T>G , CM000665.2:g.181713716T>G GRCh38
NC_000003.11:g.181431504T>G , CM000665.1:g.181431504T>G GRCh37
NC_000003.10:g.182914198T>G NCBI36
NG_009080.1:g.6783T>G , LRG_719:g.6783T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*402T>G (SOX2) MANE Select ENSP00000323588.1:n.*402T>G
ENST00000325404.2:c.*402T>G (SOX2) ENSP00000323588.1:n.*402T>G
NM_003106.3:c.*402T>G (SOX2) NP_003097.1:n.*402T>G
NR_004053.3:n.768-1469T>G (SOX2-OT)
NR_075089.1:n.767+13833T>G (SOX2-OT)
NR_075090.1:n.482-25853T>G (SOX2-OT)
NR_075091.1:n.783-1469T>G (SOX2-OT)
NR_075092.1:n.782+13833T>G (SOX2-OT)
NR_075093.1:n.473-25853T>G (SOX2-OT)
NM_003106.4:c.*402T>G (SOX2) MANE Select NP_003097.1:n.*402T>G
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