Canonical Allele Identifier: CA355474987

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 2331236
• ClinVar RCV Id: RCV002935465
• MyVariant Identifiers: chr3:g.181431088C>G (hg19) ; chr3:g.181713300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713300C>G , CM000665.2:g.181713300C>G	GRCh38
NC_000003.11:g.181431088C>G , CM000665.1:g.181431088C>G	GRCh37
NC_000003.10:g.182913782C>G	NCBI36
NG_009080.1:g.6367C>G , LRG_719:g.6367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.940C>G (SOX2) MANE Select	ENSP00000323588.1:p.Leu314Val
ENST00000325404.2:c.940C>G (SOX2)	ENSP00000323588.1:p.Leu314Val
NM_003106.3:c.940C>G (SOX2)	NP_003097.1:p.Leu314Val
NR_004053.3:n.768-1885C>G (SOX2-OT)
NR_075089.1:n.767+13417C>G (SOX2-OT)
NR_075090.1:n.482-26269C>G (SOX2-OT)
NR_075091.1:n.783-1885C>G (SOX2-OT)
NR_075092.1:n.782+13417C>G (SOX2-OT)
NR_075093.1:n.473-26269C>G (SOX2-OT)
NM_003106.4:c.940C>G (SOX2) MANE Select	NP_003097.1:p.Leu314Val