Canonical Allele Identifier: CA355474426
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs2108523114

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713040A>T , CM000665.2:g.181713040A>T GRCh38
NC_000003.11:g.181430828A>T , CM000665.1:g.181430828A>T GRCh37
NC_000003.10:g.182913522A>T NCBI36
NG_009080.1:g.6107A>T , LRG_719:g.6107A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.680A>T (SOX2) MANE Select ENSP00000323588.1:p.Tyr227Phe
ENST00000325404.2:c.680A>T (SOX2) ENSP00000323588.1:p.Tyr227Phe
NM_003106.3:c.680A>T (SOX2) NP_003097.1:p.Tyr227Phe
NR_004053.3:n.768-2145A>T (SOX2-OT)
NR_075089.1:n.767+13157A>T (SOX2-OT)
NR_075090.1:n.482-26529A>T (SOX2-OT)
NR_075091.1:n.783-2145A>T (SOX2-OT)
NR_075092.1:n.782+13157A>T (SOX2-OT)
NR_075093.1:n.473-26529A>T (SOX2-OT)
NM_003106.4:c.680A>T (SOX2) MANE Select NP_003097.1:p.Tyr227Phe