Canonical Allele Identifier: CA355473267

Gene: SOX2 SOX2-OT

Linked Data

• MyVariant Identifiers: chr3:g.181430313G>T (hg19) ; chr3:g.181712525G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712525G>T , CM000665.2:g.181712525G>T	GRCh38
NC_000003.11:g.181430313G>T , CM000665.1:g.181430313G>T	GRCh37
NC_000003.10:g.182913007G>T	NCBI36
NG_009080.1:g.5592G>T , LRG_719:g.5592G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.165G>T (SOX2) MANE Select	ENSP00000323588.1:p.Gln55His
ENST00000325404.2:c.165G>T (SOX2)	ENSP00000323588.1:p.Gln55His
NM_003106.3:c.165G>T (SOX2)	NP_003097.1:p.Gln55His
NR_004053.3:n.768-2660G>T (SOX2-OT)
NR_075089.1:n.767+12642G>T (SOX2-OT)
NR_075090.1:n.482-27044G>T (SOX2-OT)
NR_075091.1:n.783-2660G>T (SOX2-OT)
NR_075092.1:n.782+12642G>T (SOX2-OT)
NR_075093.1:n.473-27044G>T (SOX2-OT)
NM_003106.4:c.165G>T (SOX2) MANE Select	NP_003097.1:p.Gln55His