Canonical Allele Identifier: CA2717346
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs772293205
ExAC: 3:181431119 T / G
gnomAD v2: 3-181431119-T-G
gnomAD v3: 3-181713331-T-G
gnomAD v4: 3-181713331-T-G
MyVariant Identifiers: chr3:g.181431119T>G (hg19) chr3:g.181713331T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713331T>G , CM000665.2:g.181713331T>G GRCh38
NC_000003.11:g.181431119T>G , CM000665.1:g.181431119T>G GRCh37
NC_000003.10:g.182913813T>G NCBI36
NG_009080.1:g.6398T>G , LRG_719:g.6398T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*17T>G (SOX2) MANE Select ENSP00000323588.1:n.*17T>G
ENST00000325404.2:c.*17T>G (SOX2) ENSP00000323588.1:n.*17T>G
NM_003106.3:c.*17T>G (SOX2) NP_003097.1:n.*17T>G
NR_004053.3:n.768-1854T>G (SOX2-OT)
NR_075089.1:n.767+13448T>G (SOX2-OT)
NR_075090.1:n.482-26238T>G (SOX2-OT)
NR_075091.1:n.783-1854T>G (SOX2-OT)
NR_075092.1:n.782+13448T>G (SOX2-OT)
NR_075093.1:n.473-26238T>G (SOX2-OT)
NM_003106.4:c.*17T>G (SOX2) MANE Select NP_003097.1:n.*17T>G
Search 100 bp 5'
Search 100 bp 3'