Canonical Allele Identifier: CA1057047318
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs1714906529
gnomAD v3: 3-181713704-A-T
gnomAD v4: 3-181713704-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713704A>T , CM000665.2:g.181713704A>T GRCh38
NC_000003.11:g.181431492A>T , CM000665.1:g.181431492A>T GRCh37
NC_000003.10:g.182914186A>T NCBI36
NG_009080.1:g.6771A>T , LRG_719:g.6771A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*390A>T (SOX2) MANE Select ENSP00000323588.1:n.*390A>T
ENST00000325404.2:c.*390A>T (SOX2) ENSP00000323588.1:n.*390A>T
NM_003106.3:c.*390A>T (SOX2) NP_003097.1:n.*390A>T
NR_004053.3:n.768-1481A>T (SOX2-OT)
NR_075089.1:n.767+13821A>T (SOX2-OT)
NR_075090.1:n.482-25865A>T (SOX2-OT)
NR_075091.1:n.783-1481A>T (SOX2-OT)
NR_075092.1:n.782+13821A>T (SOX2-OT)
NR_075093.1:n.473-25865A>T (SOX2-OT)
NM_003106.4:c.*390A>T (SOX2) MANE Select NP_003097.1:n.*390A>T
Search 100 bp 5'
Search 100 bp 3'