Canonical Allele Identifier: CA2668691740

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713604-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713604G>C , CM000665.2:g.181713604G>C	GRCh38
NC_000003.11:g.181431392G>C , CM000665.1:g.181431392G>C	GRCh37
NC_000003.10:g.182914086G>C	NCBI36
NG_009080.1:g.6671G>C , LRG_719:g.6671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*290G>C (SOX2) MANE Select	ENSP00000323588.1:n.*290G>C
ENST00000325404.2:c.*290G>C (SOX2)	ENSP00000323588.1:n.*290G>C
NM_003106.3:c.*290G>C (SOX2)	NP_003097.1:n.*290G>C
NR_004053.3:n.768-1581G>C (SOX2-OT)
NR_075089.1:n.767+13721G>C (SOX2-OT)
NR_075090.1:n.482-25965G>C (SOX2-OT)
NR_075091.1:n.783-1581G>C (SOX2-OT)
NR_075092.1:n.782+13721G>C (SOX2-OT)
NR_075093.1:n.473-25965G>C (SOX2-OT)
NM_003106.4:c.*290G>C (SOX2) MANE Select	NP_003097.1:n.*290G>C