Canonical Allele Identifier: CA548539365
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs114948167
gnomAD v2: 3-181431124-G-C
gnomAD v3: 3-181713336-G-C
gnomAD v4: 3-181713336-G-C
MyVariant Identifiers: chr3:g.181431124G>C (hg19) chr3:g.181713336G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713336G>C , CM000665.2:g.181713336G>C GRCh38
NC_000003.11:g.181431124G>C , CM000665.1:g.181431124G>C GRCh37
NC_000003.10:g.182913818G>C NCBI36
NG_009080.1:g.6403G>C , LRG_719:g.6403G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*22G>C (SOX2) MANE Select ENSP00000323588.1:n.*22G>C
ENST00000325404.2:c.*22G>C (SOX2) ENSP00000323588.1:n.*22G>C
NM_003106.3:c.*22G>C (SOX2) NP_003097.1:n.*22G>C
NR_004053.3:n.768-1849G>C (SOX2-OT)
NR_075089.1:n.767+13453G>C (SOX2-OT)
NR_075090.1:n.482-26233G>C (SOX2-OT)
NR_075091.1:n.783-1849G>C (SOX2-OT)
NR_075092.1:n.782+13453G>C (SOX2-OT)
NR_075093.1:n.473-26233G>C (SOX2-OT)
NM_003106.4:c.*22G>C (SOX2) MANE Select NP_003097.1:n.*22G>C
Search 100 bp 5'
Search 100 bp 3'