Canonical Allele Identifier: CA355474446
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.181430837A>G (hg19) chr3:g.181713049A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713049A>G , CM000665.2:g.181713049A>G GRCh38
NC_000003.11:g.181430837A>G , CM000665.1:g.181430837A>G GRCh37
NC_000003.10:g.182913531A>G NCBI36
NG_009080.1:g.6116A>G , LRG_719:g.6116A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.689A>G (SOX2) MANE Select ENSP00000323588.1:p.Gln230Arg
ENST00000325404.2:c.689A>G (SOX2) ENSP00000323588.1:p.Gln230Arg
NM_003106.3:c.689A>G (SOX2) NP_003097.1:p.Gln230Arg
NR_004053.3:n.768-2136A>G (SOX2-OT)
NR_075089.1:n.767+13166A>G (SOX2-OT)
NR_075090.1:n.482-26520A>G (SOX2-OT)
NR_075091.1:n.783-2136A>G (SOX2-OT)
NR_075092.1:n.782+13166A>G (SOX2-OT)
NR_075093.1:n.473-26520A>G (SOX2-OT)
NM_003106.4:c.689A>G (SOX2) MANE Select NP_003097.1:p.Gln230Arg
Search 100 bp 5'
Search 100 bp 3'