Canonical Allele Identifier: CA2831039132

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713135_181713138del , CM000665.2:g.181713135_181713138del	GRCh38
NC_000003.11:g.181430923_181430926del , CM000665.1:g.181430923_181430926del	GRCh37
NC_000003.10:g.182913617_182913620del	NCBI36
NG_009080.1:g.6202_6205del , LRG_719:g.6202_6205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.775_778del (SOX2) MANE Select	ENSP00000323588.1:p.Ser259ThrfsTer14
ENST00000325404.2:c.775_778del (SOX2)	ENSP00000323588.1:p.Ser259ThrfsTer14
NM_003106.3:c.775_778del (SOX2)	NP_003097.1:p.Ser259ThrfsTer14
NR_004053.3:n.768-2050_768-2047del (SOX2-OT)
NR_075089.1:n.767+13252_767+13255del (SOX2-OT)
NR_075090.1:n.482-26434_482-26431del (SOX2-OT)
NR_075091.1:n.783-2050_783-2047del (SOX2-OT)
NR_075092.1:n.782+13252_782+13255del (SOX2-OT)
NR_075093.1:n.473-26434_473-26431del (SOX2-OT)
NM_003106.4:c.775_778del (SOX2) MANE Select	NP_003097.1:p.Ser259ThrfsTer14