Canonical Allele Identifier: CA2668691926
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

gnomAD v4: 3-181713805-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713805A>C , CM000665.2:g.181713805A>C GRCh38
NC_000003.11:g.181431593A>C , CM000665.1:g.181431593A>C GRCh37
NC_000003.10:g.182914287A>C NCBI36
NG_009080.1:g.6872A>C , LRG_719:g.6872A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*491A>C (SOX2) MANE Select ENSP00000323588.1:n.*491A>C
ENST00000325404.2:c.*491A>C (SOX2) ENSP00000323588.1:n.*491A>C
NM_003106.3:c.*491A>C (SOX2) NP_003097.1:n.*491A>C
NR_004053.3:n.768-1380A>C (SOX2-OT)
NR_075089.1:n.767+13922A>C (SOX2-OT)
NR_075090.1:n.482-25764A>C (SOX2-OT)
NR_075091.1:n.783-1380A>C (SOX2-OT)
NR_075092.1:n.782+13922A>C (SOX2-OT)
NR_075093.1:n.473-25764A>C (SOX2-OT)
NM_003106.4:c.*491A>C (SOX2) MANE Select NP_003097.1:n.*491A>C
Search 100 bp 5'
Search 100 bp 3'