Canonical Allele Identifier: CA2717234

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs755517456
• ExAC: 3:181430210 G / T
• gnomAD v2: 3-181430210-G-T
• gnomAD v4: 3-181712422-G-T
• MyVariant Identifiers: chr3:g.181430210G>T (hg19) ; chr3:g.181712422G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712422G>T , CM000665.2:g.181712422G>T	GRCh38
NC_000003.11:g.181430210G>T , CM000665.1:g.181430210G>T	GRCh37
NC_000003.10:g.182912904G>T	NCBI36
NG_009080.1:g.5489G>T , LRG_719:g.5489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.62G>T (SOX2) MANE Select	ENSP00000323588.1:p.Gly21Val
ENST00000325404.2:c.62G>T (SOX2)	ENSP00000323588.1:p.Gly21Val
NM_003106.3:c.62G>T (SOX2)	NP_003097.1:p.Gly21Val
NR_004053.3:n.768-2763G>T (SOX2-OT)
NR_075089.1:n.767+12539G>T (SOX2-OT)
NR_075090.1:n.482-27147G>T (SOX2-OT)
NR_075091.1:n.783-2763G>T (SOX2-OT)
NR_075092.1:n.782+12539G>T (SOX2-OT)
NR_075093.1:n.473-27147G>T (SOX2-OT)
NM_003106.4:c.62G>T (SOX2) MANE Select	NP_003097.1:p.Gly21Val