Canonical Allele Identifier: CA2717342
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs558833744
ExAC: 3:181431080 C / G
gnomAD v2: 3-181431080-C-G
gnomAD v3: 3-181713292-C-G
gnomAD v4: 3-181713292-C-G
MyVariant Identifiers: chr3:g.181431080C>G (hg19) chr3:g.181713292C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713292C>G , CM000665.2:g.181713292C>G GRCh38
NC_000003.11:g.181431080C>G , CM000665.1:g.181431080C>G GRCh37
NC_000003.10:g.182913774C>G NCBI36
NG_009080.1:g.6359C>G , LRG_719:g.6359C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.932C>G (SOX2) MANE Select ENSP00000323588.1:p.Thr311Arg
ENST00000325404.2:c.932C>G (SOX2) ENSP00000323588.1:p.Thr311Arg
NM_003106.3:c.932C>G (SOX2) NP_003097.1:p.Thr311Arg
NR_004053.3:n.768-1893C>G (SOX2-OT)
NR_075089.1:n.767+13409C>G (SOX2-OT)
NR_075090.1:n.482-26277C>G (SOX2-OT)
NR_075091.1:n.783-1893C>G (SOX2-OT)
NR_075092.1:n.782+13409C>G (SOX2-OT)
NR_075093.1:n.473-26277C>G (SOX2-OT)
NM_003106.4:c.932C>G (SOX2) MANE Select NP_003097.1:p.Thr311Arg
Search 100 bp 5'
Search 100 bp 3'