Canonical Allele Identifier: CA1139658368

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 986778
• ClinVar RCV Id: RCV001267869
• dbSNP Id: rs1714837282

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712418_181712419delinsT , CM000665.2:g.181712418_181712419delinsT	GRCh38
NC_000003.11:g.181430206_181430207delinsT , CM000665.1:g.181430206_181430207delinsT	GRCh37
NC_000003.10:g.182912900_182912901delinsT	NCBI36
NG_009080.1:g.5485_5486delinsT , LRG_719:g.5485_5486delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.58_59delinsT (SOX2) MANE Select	ENSP00000323588.1:p.Gly20SerfsTer26
ENST00000325404.2:c.58_59delinsT (SOX2)	ENSP00000323588.1:p.Gly20SerfsTer26
NM_003106.3:c.58_59delinsT (SOX2)	NP_003097.1:p.Gly20SerfsTer26
NR_004053.3:n.768-2767_768-2766delinsT (SOX2-OT)
NR_075089.1:n.767+12535_767+12536delinsT (SOX2-OT)
NR_075090.1:n.482-27151_482-27150delinsT (SOX2-OT)
NR_075091.1:n.783-2767_783-2766delinsT (SOX2-OT)
NR_075092.1:n.782+12535_782+12536delinsT (SOX2-OT)
NR_075093.1:n.473-27151_473-27150delinsT (SOX2-OT)
NM_003106.4:c.58_59delinsT (SOX2) MANE Select	NP_003097.1:p.Gly20SerfsTer26