Canonical Allele Identifier: CA437335227

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs74480245
• gnomAD v2: 3-181430601-G-C
• gnomAD v4: 3-181712813-G-C
• MyVariant Identifiers: chr3:g.181430601G>C (hg19) ; chr3:g.181712813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712813G>C , CM000665.2:g.181712813G>C	GRCh38
NC_000003.11:g.181430601G>C , CM000665.1:g.181430601G>C	GRCh37
NC_000003.10:g.182913295G>C	NCBI36
NG_009080.1:g.5880G>C , LRG_719:g.5880G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.453G>C (SOX2) MANE Select	ENSP00000323588.1:p.Ala151=
ENST00000325404.2:c.453G>C (SOX2)	ENSP00000323588.1:p.Ala151=
NM_003106.3:c.453G>C (SOX2)	NP_003097.1:p.Ala151=
NR_004053.3:n.768-2372G>C (SOX2-OT)
NR_075089.1:n.767+12930G>C (SOX2-OT)
NR_075090.1:n.482-26756G>C (SOX2-OT)
NR_075091.1:n.783-2372G>C (SOX2-OT)
NR_075092.1:n.782+12930G>C (SOX2-OT)
NR_075093.1:n.473-26756G>C (SOX2-OT)
NM_003106.4:c.453G>C (SOX2) MANE Select	NP_003097.1:p.Ala151=