Canonical Allele Identifier: CA1424780890
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs1576854367

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713796T>C , CM000665.2:g.181713796T>C GRCh38
NC_000003.11:g.181431584T>C , CM000665.1:g.181431584T>C GRCh37
NC_000003.10:g.182914278T>C NCBI36
NG_009080.1:g.6863T>C , LRG_719:g.6863T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*482T>C (SOX2) MANE Select ENSP00000323588.1:n.*482T>C
ENST00000325404.2:c.*482T>C (SOX2) ENSP00000323588.1:n.*482T>C
NM_003106.3:c.*482T>C (SOX2) NP_003097.1:n.*482T>C
NR_004053.3:n.768-1389T>C (SOX2-OT)
NR_075089.1:n.767+13913T>C (SOX2-OT)
NR_075090.1:n.482-25773T>C (SOX2-OT)
NR_075091.1:n.783-1389T>C (SOX2-OT)
NR_075092.1:n.782+13913T>C (SOX2-OT)
NR_075093.1:n.473-25773T>C (SOX2-OT)
NM_003106.4:c.*482T>C (SOX2) MANE Select NP_003097.1:n.*482T>C