Canonical Allele Identifier: CA2573320298

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712883_181712886dup , CM000665.2:g.181712883_181712886dup	GRCh38
NC_000003.11:g.181430671_181430674dup , CM000665.1:g.181430671_181430674dup	GRCh37
NC_000003.10:g.182913365_182913368dup	NCBI36
NG_009080.1:g.5950_5953dup , LRG_719:g.5950_5953dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.523_526dup (SOX2) MANE Select	ENSP00000323588.1:p.Asp176AlafsTer?
ENST00000325404.2:c.523_526dup (SOX2)	ENSP00000323588.1:p.Asp176AlafsTer?
NM_003106.3:c.523_526dup (SOX2)	NP_003097.1:p.Asp176AlafsTer?
NR_004053.3:n.768-2302_768-2299dup (SOX2-OT)
NR_075089.1:n.767+13000_767+13003dup (SOX2-OT)
NR_075090.1:n.482-26686_482-26683dup (SOX2-OT)
NR_075091.1:n.783-2302_783-2299dup (SOX2-OT)
NR_075092.1:n.782+13000_782+13003dup (SOX2-OT)
NR_075093.1:n.473-26686_473-26683dup (SOX2-OT)
NM_003106.4:c.523_526dup (SOX2) MANE Select	NP_003097.1:p.Asp176AlafsTer?