Canonical Allele Identifier: CA355474312

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1714866256
• gnomAD v3: 3-181712991-A-G
• gnomAD v4: 3-181712991-A-G
• MyVariant Identifiers: chr3:g.181430779A>G (hg19) ; chr3:g.181712991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712991A>G , CM000665.2:g.181712991A>G	GRCh38
NC_000003.11:g.181430779A>G , CM000665.1:g.181430779A>G	GRCh37
NC_000003.10:g.182913473A>G	NCBI36
NG_009080.1:g.6058A>G , LRG_719:g.6058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.631A>G (SOX2) MANE Select	ENSP00000323588.1:p.Thr211Ala
ENST00000325404.2:c.631A>G (SOX2)	ENSP00000323588.1:p.Thr211Ala
NM_003106.3:c.631A>G (SOX2)	NP_003097.1:p.Thr211Ala
NR_004053.3:n.768-2194A>G (SOX2-OT)
NR_075089.1:n.767+13108A>G (SOX2-OT)
NR_075090.1:n.482-26578A>G (SOX2-OT)
NR_075091.1:n.783-2194A>G (SOX2-OT)
NR_075092.1:n.782+13108A>G (SOX2-OT)
NR_075093.1:n.473-26578A>G (SOX2-OT)
NM_003106.4:c.631A>G (SOX2) MANE Select	NP_003097.1:p.Thr211Ala