Canonical Allele Identifier: CA437335594

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs2108522928
• gnomAD v4: 3-181712954-C-T
• MyVariant Identifiers: chr3:g.181430742C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712954C>T , CM000665.2:g.181712954C>T	GRCh38
NC_000003.11:g.181430742C>T , CM000665.1:g.181430742C>T	GRCh37
NC_000003.10:g.182913436C>T	NCBI36
NG_009080.1:g.6021C>T , LRG_719:g.6021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.594C>T (SOX2) MANE Select	ENSP00000323588.1:p.His198=
ENST00000325404.2:c.594C>T (SOX2)	ENSP00000323588.1:p.His198=
NM_003106.3:c.594C>T (SOX2)	NP_003097.1:p.His198=
NR_004053.3:n.768-2231C>T (SOX2-OT)
NR_075089.1:n.767+13071C>T (SOX2-OT)
NR_075090.1:n.482-26615C>T (SOX2-OT)
NR_075091.1:n.783-2231C>T (SOX2-OT)
NR_075092.1:n.782+13071C>T (SOX2-OT)
NR_075093.1:n.473-26615C>T (SOX2-OT)
NM_003106.4:c.594C>T (SOX2) MANE Select	NP_003097.1:p.His198=