Canonical Allele Identifier: CA355474353

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713009-A-C
• MyVariant Identifiers: chr3:g.181430797A>C (hg19) ; chr3:g.181713009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713009A>C , CM000665.2:g.181713009A>C	GRCh38
NC_000003.11:g.181430797A>C , CM000665.1:g.181430797A>C	GRCh37
NC_000003.10:g.182913491A>C	NCBI36
NG_009080.1:g.6076A>C , LRG_719:g.6076A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.649A>C (SOX2) MANE Select	ENSP00000323588.1:p.Met217Leu
ENST00000325404.2:c.649A>C (SOX2)	ENSP00000323588.1:p.Met217Leu
NM_003106.3:c.649A>C (SOX2)	NP_003097.1:p.Met217Leu
NR_004053.3:n.768-2176A>C (SOX2-OT)
NR_075089.1:n.767+13126A>C (SOX2-OT)
NR_075090.1:n.482-26560A>C (SOX2-OT)
NR_075091.1:n.783-2176A>C (SOX2-OT)
NR_075092.1:n.782+13126A>C (SOX2-OT)
NR_075093.1:n.473-26560A>C (SOX2-OT)
NM_003106.4:c.649A>C (SOX2) MANE Select	NP_003097.1:p.Met217Leu