Canonical Allele Identifier: CA89241867
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs1037867266
gnomAD v3: 3-181712438-C-T
gnomAD v4: 3-181712438-C-T
MyVariant Identifiers: chr3:g.181430226C>T (hg19) chr3:g.181712438C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712438C>T , CM000665.2:g.181712438C>T GRCh38
NC_000003.11:g.181430226C>T , CM000665.1:g.181430226C>T GRCh37
NC_000003.10:g.182912920C>T NCBI36
NG_009080.1:g.5505C>T , LRG_719:g.5505C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.78C>T (SOX2) MANE Select ENSP00000323588.1:p.Thr26=
ENST00000325404.2:c.78C>T (SOX2) ENSP00000323588.1:p.Thr26=
NM_003106.3:c.78C>T (SOX2) NP_003097.1:p.Thr26=
NR_004053.3:n.768-2747C>T (SOX2-OT)
NR_075089.1:n.767+12555C>T (SOX2-OT)
NR_075090.1:n.482-27131C>T (SOX2-OT)
NR_075091.1:n.783-2747C>T (SOX2-OT)
NR_075092.1:n.782+12555C>T (SOX2-OT)
NR_075093.1:n.473-27131C>T (SOX2-OT)
NM_003106.4:c.78C>T (SOX2) MANE Select NP_003097.1:p.Thr26=
Search 100 bp 5'
Search 100 bp 3'