Canonical Allele Identifier: CA89241913
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 1245228
ClinVar RCV Id: RCV001648597
dbSNP Id: rs201617684
gnomAD v2: 3-181431226-G-GA
gnomAD v3: 3-181713438-G-GA
gnomAD v4: 3-181713438-G-GA
COSMIC: COSN20099437
MyVariant Identifiers: chr3:g.181431227_181431228insA (hg19) chr3:g.181431226_181431227insA (hg19) chr3:g.181713439_181713440insA (hg38) chr3:g.181713438_181713439insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713449dup , CM000665.2:g.181713449dup GRCh38
NC_000003.11:g.181431237dup , CM000665.1:g.181431237dup GRCh37
NC_000003.10:g.182913931dup NCBI36
NG_009080.1:g.6516dup , LRG_719:g.6516dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*135dup (SOX2) MANE Select ENSP00000323588.1:n.*135dup
ENST00000325404.2:c.*135dup (SOX2) ENSP00000323588.1:n.*135dup
NM_003106.3:c.*135dup (SOX2) NP_003097.1:n.*135dup
NR_004053.3:n.768-1736dup (SOX2-OT)
NR_075089.1:n.767+13566dup (SOX2-OT)
NR_075090.1:n.482-26120dup (SOX2-OT)
NR_075091.1:n.783-1736dup (SOX2-OT)
NR_075092.1:n.782+13566dup (SOX2-OT)
NR_075093.1:n.473-26120dup (SOX2-OT)
NM_003106.4:c.*135dup (SOX2) MANE Select NP_003097.1:n.*135dup
Search 100 bp 5'
Search 100 bp 3'