Canonical Allele Identifier: CA658657351

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 450122
• ClinVar RCV Id: RCV000521838
• dbSNP Id: rs1553862966
• MyVariant Identifiers: chr3:g.181430346dup (hg19) ; chr3:g.181712558dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712558dup , CM000665.2:g.181712558dup	GRCh38
NC_000003.11:g.181430346dup , CM000665.1:g.181430346dup	GRCh37
NC_000003.10:g.182913040dup	NCBI36
NG_009080.1:g.5625dup , LRG_719:g.5625dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.198dup (SOX2) MANE Select	ENSP00000323588.1:p.His67AlafsTer29
ENST00000325404.2:c.198dup (SOX2)	ENSP00000323588.1:p.His67AlafsTer29
NM_003106.3:c.198dup (SOX2)	NP_003097.1:p.His67AlafsTer29
NR_004053.3:n.768-2627dup (SOX2-OT)
NR_075089.1:n.767+12675dup (SOX2-OT)
NR_075090.1:n.482-27011dup (SOX2-OT)
NR_075091.1:n.783-2627dup (SOX2-OT)
NR_075092.1:n.782+12675dup (SOX2-OT)
NR_075093.1:n.473-27011dup (SOX2-OT)
NM_003106.4:c.198dup (SOX2) MANE Select	NP_003097.1:p.His67AlafsTer29