Canonical Allele Identifier: CA355475010

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713310-T-C
• MyVariant Identifiers: chr3:g.181431098T>C (hg19) ; chr3:g.181713310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713310T>C , CM000665.2:g.181713310T>C	GRCh38
NC_000003.11:g.181431098T>C , CM000665.1:g.181431098T>C	GRCh37
NC_000003.10:g.182913792T>C	NCBI36
NG_009080.1:g.6377T>C , LRG_719:g.6377T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.950T>C (SOX2) MANE Select	ENSP00000323588.1:p.Met317Thr
ENST00000325404.2:c.950T>C (SOX2)	ENSP00000323588.1:p.Met317Thr
NM_003106.3:c.950T>C (SOX2)	NP_003097.1:p.Met317Thr
NR_004053.3:n.768-1875T>C (SOX2-OT)
NR_075089.1:n.767+13427T>C (SOX2-OT)
NR_075090.1:n.482-26259T>C (SOX2-OT)
NR_075091.1:n.783-1875T>C (SOX2-OT)
NR_075092.1:n.782+13427T>C (SOX2-OT)
NR_075093.1:n.473-26259T>C (SOX2-OT)
NM_003106.4:c.950T>C (SOX2) MANE Select	NP_003097.1:p.Met317Thr