Canonical Allele Identifier: CA2581893906
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713783C>T , CM000665.2:g.181713783C>T GRCh38
NC_000003.11:g.181431571C>T , CM000665.1:g.181431571C>T GRCh37
NC_000003.10:g.182914265C>T NCBI36
NG_009080.1:g.6850C>T , LRG_719:g.6850C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*469C>T (SOX2) MANE Select ENSP00000323588.1:n.*469C>T
ENST00000325404.2:c.*469C>T (SOX2) ENSP00000323588.1:n.*469C>T
NM_003106.3:c.*469C>T (SOX2) NP_003097.1:n.*469C>T
NR_004053.3:n.768-1402C>T (SOX2-OT)
NR_075089.1:n.767+13900C>T (SOX2-OT)
NR_075090.1:n.482-25786C>T (SOX2-OT)
NR_075091.1:n.783-1402C>T (SOX2-OT)
NR_075092.1:n.782+13900C>T (SOX2-OT)
NR_075093.1:n.473-25786C>T (SOX2-OT)
NM_003106.4:c.*469C>T (SOX2) MANE Select NP_003097.1:n.*469C>T