Canonical Allele Identifier: CA1057047456

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1714910094
• gnomAD v3: 3-181713804-G-A
• gnomAD v4: 3-181713804-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713804G>A , CM000665.2:g.181713804G>A	GRCh38
NC_000003.11:g.181431592G>A , CM000665.1:g.181431592G>A	GRCh37
NC_000003.10:g.182914286G>A	NCBI36
NG_009080.1:g.6871G>A , LRG_719:g.6871G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.*490G>A (SOX2) MANE Select	ENSP00000323588.1:n.*490G>A
ENST00000325404.2:c.*490G>A (SOX2)	ENSP00000323588.1:n.*490G>A
NM_003106.3:c.*490G>A (SOX2)	NP_003097.1:n.*490G>A
NR_004053.3:n.768-1381G>A (SOX2-OT)
NR_075089.1:n.767+13921G>A (SOX2-OT)
NR_075090.1:n.482-25765G>A (SOX2-OT)
NR_075091.1:n.783-1381G>A (SOX2-OT)
NR_075092.1:n.782+13921G>A (SOX2-OT)
NR_075093.1:n.473-25765G>A (SOX2-OT)
NM_003106.4:c.*490G>A (SOX2) MANE Select	NP_003097.1:n.*490G>A