Canonical Allele Identifier: CA2717237

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs777862989
• ExAC: 3:181430218 A / C
• gnomAD v2: 3-181430218-A-C
• gnomAD v4: 3-181712430-A-C
• MyVariant Identifiers: chr3:g.181430218A>C (hg19) ; chr3:g.181712430A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712430A>C , CM000665.2:g.181712430A>C	GRCh38
NC_000003.11:g.181430218A>C , CM000665.1:g.181430218A>C	GRCh37
NC_000003.10:g.182912912A>C	NCBI36
NG_009080.1:g.5497A>C , LRG_719:g.5497A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.70A>C (SOX2) MANE Select	ENSP00000323588.1:p.Asn24His
ENST00000325404.2:c.70A>C (SOX2)	ENSP00000323588.1:p.Asn24His
NM_003106.3:c.70A>C (SOX2)	NP_003097.1:p.Asn24His
NR_004053.3:n.768-2755A>C (SOX2-OT)
NR_075089.1:n.767+12547A>C (SOX2-OT)
NR_075090.1:n.482-27139A>C (SOX2-OT)
NR_075091.1:n.783-2755A>C (SOX2-OT)
NR_075092.1:n.782+12547A>C (SOX2-OT)
NR_075093.1:n.473-27139A>C (SOX2-OT)
NM_003106.4:c.70A>C (SOX2) MANE Select	NP_003097.1:p.Asn24His