Canonical Allele Identifier: CA355473184

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs2108521594
• MyVariant Identifiers: chr3:g.181430278C>G (hg19) ; chr3:g.181712490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712490C>G , CM000665.2:g.181712490C>G	GRCh38
NC_000003.11:g.181430278C>G , CM000665.1:g.181430278C>G	GRCh37
NC_000003.10:g.182912972C>G	NCBI36
NG_009080.1:g.5557C>G , LRG_719:g.5557C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.130C>G (SOX2) MANE Select	ENSP00000323588.1:p.Pro44Ala
ENST00000325404.2:c.130C>G (SOX2)	ENSP00000323588.1:p.Pro44Ala
NM_003106.3:c.130C>G (SOX2)	NP_003097.1:p.Pro44Ala
NR_004053.3:n.768-2695C>G (SOX2-OT)
NR_075089.1:n.767+12607C>G (SOX2-OT)
NR_075090.1:n.482-27079C>G (SOX2-OT)
NR_075091.1:n.783-2695C>G (SOX2-OT)
NR_075092.1:n.782+12607C>G (SOX2-OT)
NR_075093.1:n.473-27079C>G (SOX2-OT)
NM_003106.4:c.130C>G (SOX2) MANE Select	NP_003097.1:p.Pro44Ala