Canonical Allele Identifier: CA355474972

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs2108523905
• MyVariant Identifiers: chr3:g.181431079A>T (hg19) ; chr3:g.181713291A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713291A>T , CM000665.2:g.181713291A>T	GRCh38
NC_000003.11:g.181431079A>T , CM000665.1:g.181431079A>T	GRCh37
NC_000003.10:g.182913773A>T	NCBI36
NG_009080.1:g.6358A>T , LRG_719:g.6358A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.931A>T (SOX2) MANE Select	ENSP00000323588.1:p.Thr311Ser
ENST00000325404.2:c.931A>T (SOX2)	ENSP00000323588.1:p.Thr311Ser
NM_003106.3:c.931A>T (SOX2)	NP_003097.1:p.Thr311Ser
NR_004053.3:n.768-1894A>T (SOX2-OT)
NR_075089.1:n.767+13408A>T (SOX2-OT)
NR_075090.1:n.482-26278A>T (SOX2-OT)
NR_075091.1:n.783-1894A>T (SOX2-OT)
NR_075092.1:n.782+13408A>T (SOX2-OT)
NR_075093.1:n.473-26278A>T (SOX2-OT)
NM_003106.4:c.931A>T (SOX2) MANE Select	NP_003097.1:p.Thr311Ser