Canonical Allele Identifier: CA2704853904

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs2108523416

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713131_181713132del , CM000665.2:g.181713131_181713132del	GRCh38
NC_000003.11:g.181430919_181430920del , CM000665.1:g.181430919_181430920del	GRCh37
NC_000003.10:g.182913613_182913614del	NCBI36
NG_009080.1:g.6198_6199del , LRG_719:g.6198_6199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.771_772del (SOX2) MANE Select	ENSP00000323588.1:p.Ser258LeufsTer?
ENST00000325404.2:c.771_772del (SOX2)	ENSP00000323588.1:p.Ser258LeufsTer?
NM_003106.3:c.771_772del (SOX2)	NP_003097.1:p.Ser258LeufsTer?
NR_004053.3:n.768-2054_768-2053del (SOX2-OT)
NR_075089.1:n.767+13248_767+13249del (SOX2-OT)
NR_075090.1:n.482-26438_482-26437del (SOX2-OT)
NR_075091.1:n.783-2054_783-2053del (SOX2-OT)
NR_075092.1:n.782+13248_782+13249del (SOX2-OT)
NR_075093.1:n.473-26438_473-26437del (SOX2-OT)
NM_003106.4:c.771_772del (SOX2) MANE Select	NP_003097.1:p.Ser258LeufsTer?