Canonical Allele Identifier: CA903520939
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs1184747889
gnomAD v3: 3-181713810-C-G
gnomAD v4: 3-181713810-C-G
MyVariant Identifiers: chr3:g.181431598C>G (hg19) chr3:g.181713810C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713810C>G , CM000665.2:g.181713810C>G GRCh38
NC_000003.11:g.181431598C>G , CM000665.1:g.181431598C>G GRCh37
NC_000003.10:g.182914292C>G NCBI36
NG_009080.1:g.6877C>G , LRG_719:g.6877C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*496C>G (SOX2) MANE Select ENSP00000323588.1:n.*496C>G
ENST00000325404.2:c.*496C>G (SOX2) ENSP00000323588.1:n.*496C>G
NM_003106.3:c.*496C>G (SOX2) NP_003097.1:n.*496C>G
NR_004053.3:n.768-1375C>G (SOX2-OT)
NR_075089.1:n.767+13927C>G (SOX2-OT)
NR_075090.1:n.482-25759C>G (SOX2-OT)
NR_075091.1:n.783-1375C>G (SOX2-OT)
NR_075092.1:n.782+13927C>G (SOX2-OT)
NR_075093.1:n.473-25759C>G (SOX2-OT)
NM_003106.4:c.*496C>G (SOX2) MANE Select NP_003097.1:n.*496C>G
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