Canonical Allele Identifier: CA355475011
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713310T>G , CM000665.2:g.181713310T>G GRCh38
NC_000003.11:g.181431098T>G , CM000665.1:g.181431098T>G GRCh37
NC_000003.10:g.182913792T>G NCBI36
NG_009080.1:g.6377T>G , LRG_719:g.6377T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.950T>G (SOX2) MANE Select ENSP00000323588.1:p.Met317Arg
ENST00000325404.2:c.950T>G (SOX2) ENSP00000323588.1:p.Met317Arg
NM_003106.3:c.950T>G (SOX2) NP_003097.1:p.Met317Arg
NR_004053.3:n.768-1875T>G (SOX2-OT)
NR_075089.1:n.767+13427T>G (SOX2-OT)
NR_075090.1:n.482-26259T>G (SOX2-OT)
NR_075091.1:n.783-1875T>G (SOX2-OT)
NR_075092.1:n.782+13427T>G (SOX2-OT)
NR_075093.1:n.473-26259T>G (SOX2-OT)
NM_003106.4:c.950T>G (SOX2) MANE Select NP_003097.1:p.Met317Arg