Canonical Allele Identifier: CA1424780541

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1714893519
• gnomAD v4: 3-181713481-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713481A>G , CM000665.2:g.181713481A>G	GRCh38
NC_000003.11:g.181431269A>G , CM000665.1:g.181431269A>G	GRCh37
NC_000003.10:g.182913963A>G	NCBI36
NG_009080.1:g.6548A>G , LRG_719:g.6548A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*167A>G (SOX2) MANE Select	ENSP00000323588.1:n.*167A>G
ENST00000325404.2:c.*167A>G (SOX2)	ENSP00000323588.1:n.*167A>G
NM_003106.3:c.*167A>G (SOX2)	NP_003097.1:n.*167A>G
NR_004053.3:n.768-1704A>G (SOX2-OT)
NR_075089.1:n.767+13598A>G (SOX2-OT)
NR_075090.1:n.482-26088A>G (SOX2-OT)
NR_075091.1:n.783-1704A>G (SOX2-OT)
NR_075092.1:n.782+13598A>G (SOX2-OT)
NR_075093.1:n.473-26088A>G (SOX2-OT)
NM_003106.4:c.*167A>G (SOX2) MANE Select	NP_003097.1:n.*167A>G