Canonical Allele Identifier: CA903520453

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs988040270
• MyVariant Identifiers: chr3:g.181431136T>G (hg19) ; chr3:g.181713348T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713348T>G , CM000665.2:g.181713348T>G	GRCh38
NC_000003.11:g.181431136T>G , CM000665.1:g.181431136T>G	GRCh37
NC_000003.10:g.182913830T>G	NCBI36
NG_009080.1:g.6415T>G , LRG_719:g.6415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*34T>G (SOX2) MANE Select	ENSP00000323588.1:n.*34T>G
ENST00000325404.2:c.*34T>G (SOX2)	ENSP00000323588.1:n.*34T>G
NM_003106.3:c.*34T>G (SOX2)	NP_003097.1:n.*34T>G
NR_004053.3:n.768-1837T>G (SOX2-OT)
NR_075089.1:n.767+13465T>G (SOX2-OT)
NR_075090.1:n.482-26221T>G (SOX2-OT)
NR_075091.1:n.783-1837T>G (SOX2-OT)
NR_075092.1:n.782+13465T>G (SOX2-OT)
NR_075093.1:n.473-26221T>G (SOX2-OT)
NM_003106.4:c.*34T>G (SOX2) MANE Select	NP_003097.1:n.*34T>G