Canonical Allele Identifier: CA658657352

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 467822
• ClinVar RCV Id: RCV000551841
• dbSNP Id: rs1553862971
• MyVariant Identifiers: chr3:g.181430392_181430393del (hg19) ; chr3:g.181712604_181712605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712604_181712605del , CM000665.2:g.181712604_181712605del	GRCh38
NC_000003.11:g.181430392_181430393del , CM000665.1:g.181430392_181430393del	GRCh37
NC_000003.10:g.182913086_182913087del	NCBI36
NG_009080.1:g.5671_5672del , LRG_719:g.5671_5672del

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.244_245del (SOX2) MANE Select	ENSP00000323588.1:p.Leu82ValfsTer13
ENST00000325404.2:c.244_245del (SOX2)	ENSP00000323588.1:p.Leu82ValfsTer13
NM_003106.3:c.244_245del (SOX2)	NP_003097.1:p.Leu82ValfsTer13
NR_004053.3:n.768-2581_768-2580del (SOX2-OT)
NR_075089.1:n.767+12721_767+12722del (SOX2-OT)
NR_075090.1:n.482-26965_482-26964del (SOX2-OT)
NR_075091.1:n.783-2581_783-2580del (SOX2-OT)
NR_075092.1:n.782+12721_782+12722del (SOX2-OT)
NR_075093.1:n.473-26965_473-26964del (SOX2-OT)
NM_003106.4:c.244_245del (SOX2) MANE Select	NP_003097.1:p.Leu82ValfsTer13