Canonical Allele Identifier: CA2759648097

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713429_181713430dup , CM000665.2:g.181713429_181713430dup	GRCh38
NC_000003.11:g.181431217_181431218dup , CM000665.1:g.181431217_181431218dup	GRCh37
NC_000003.10:g.182913911_182913912dup	NCBI36
NG_009080.1:g.6496_6497dup , LRG_719:g.6496_6497dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*115_*116dup (SOX2) MANE Select	ENSP00000323588.1:n.*115_*116dup
ENST00000325404.2:c.*115_*116dup (SOX2)	ENSP00000323588.1:n.*115_*116dup
NM_003106.3:c.*115_*116dup (SOX2)	NP_003097.1:n.*115_*116dup
NR_004053.3:n.768-1756_768-1755dup (SOX2-OT)
NR_075089.1:n.767+13546_767+13547dup (SOX2-OT)
NR_075090.1:n.482-26140_482-26139dup (SOX2-OT)
NR_075091.1:n.783-1756_783-1755dup (SOX2-OT)
NR_075092.1:n.782+13546_782+13547dup (SOX2-OT)
NR_075093.1:n.473-26140_473-26139dup (SOX2-OT)
NM_003106.4:c.*115_*116dup (SOX2) MANE Select	NP_003097.1:n.*115_*116dup