Canonical Allele Identifier: CA355473034
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 2405567
ClinVar RCV Id: RCV002764399
dbSNP Id: rs1227940600
gnomAD v2: 3-181430204-G-T
gnomAD v4: 3-181712416-G-T
MyVariant Identifiers: chr3:g.181430204G>T (hg19) chr3:g.181712416G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712416G>T , CM000665.2:g.181712416G>T GRCh38
NC_000003.11:g.181430204G>T , CM000665.1:g.181430204G>T GRCh37
NC_000003.10:g.182912898G>T NCBI36
NG_009080.1:g.5483G>T , LRG_719:g.5483G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.56G>T (SOX2) MANE Select ENSP00000323588.1:p.Gly19Val
ENST00000325404.2:c.56G>T (SOX2) ENSP00000323588.1:p.Gly19Val
NM_003106.3:c.56G>T (SOX2) NP_003097.1:p.Gly19Val
NR_004053.3:n.768-2769G>T (SOX2-OT)
NR_075089.1:n.767+12533G>T (SOX2-OT)
NR_075090.1:n.482-27153G>T (SOX2-OT)
NR_075091.1:n.783-2769G>T (SOX2-OT)
NR_075092.1:n.782+12533G>T (SOX2-OT)
NR_075093.1:n.473-27153G>T (SOX2-OT)
NM_003106.4:c.56G>T (SOX2) MANE Select NP_003097.1:p.Gly19Val
Search 100 bp 5'
Search 100 bp 3'