Canonical Allele Identifier: CA89241901
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs988040270
gnomAD v2: 3-181431136-T-C
gnomAD v3: 3-181713348-T-C
gnomAD v4: 3-181713348-T-C
MyVariant Identifiers: chr3:g.181431136T>C (hg19) chr3:g.181713348T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713348T>C , CM000665.2:g.181713348T>C GRCh38
NC_000003.11:g.181431136T>C , CM000665.1:g.181431136T>C GRCh37
NC_000003.10:g.182913830T>C NCBI36
NG_009080.1:g.6415T>C , LRG_719:g.6415T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*34T>C (SOX2) MANE Select ENSP00000323588.1:n.*34T>C
ENST00000325404.2:c.*34T>C (SOX2) ENSP00000323588.1:n.*34T>C
NM_003106.3:c.*34T>C (SOX2) NP_003097.1:n.*34T>C
NR_004053.3:n.768-1837T>C (SOX2-OT)
NR_075089.1:n.767+13465T>C (SOX2-OT)
NR_075090.1:n.482-26221T>C (SOX2-OT)
NR_075091.1:n.783-1837T>C (SOX2-OT)
NR_075092.1:n.782+13465T>C (SOX2-OT)
NR_075093.1:n.473-26221T>C (SOX2-OT)
NM_003106.4:c.*34T>C (SOX2) MANE Select NP_003097.1:n.*34T>C
Search 100 bp 5'
Search 100 bp 3'