Canonical Allele Identifier: CA1057046713

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1714888885
• gnomAD v3: 3-181713381-A-G
• gnomAD v4: 3-181713381-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713381A>G , CM000665.2:g.181713381A>G	GRCh38
NC_000003.11:g.181431169A>G , CM000665.1:g.181431169A>G	GRCh37
NC_000003.10:g.182913863A>G	NCBI36
NG_009080.1:g.6448A>G , LRG_719:g.6448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*67A>G (SOX2) MANE Select	ENSP00000323588.1:n.*67A>G
ENST00000325404.2:c.*67A>G (SOX2)	ENSP00000323588.1:n.*67A>G
NM_003106.3:c.*67A>G (SOX2)	NP_003097.1:n.*67A>G
NR_004053.3:n.768-1804A>G (SOX2-OT)
NR_075089.1:n.767+13498A>G (SOX2-OT)
NR_075090.1:n.482-26188A>G (SOX2-OT)
NR_075091.1:n.783-1804A>G (SOX2-OT)
NR_075092.1:n.782+13498A>G (SOX2-OT)
NR_075093.1:n.473-26188A>G (SOX2-OT)
NM_003106.4:c.*67A>G (SOX2) MANE Select	NP_003097.1:n.*67A>G