Canonical Allele Identifier: CA2759648184

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713574_181713577del , CM000665.2:g.181713574_181713577del	GRCh38
NC_000003.11:g.181431362_181431365del , CM000665.1:g.181431362_181431365del	GRCh37
NC_000003.10:g.182914056_182914059del	NCBI36
NG_009080.1:g.6641_6644del , LRG_719:g.6641_6644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*260_*263del (SOX2) MANE Select	ENSP00000323588.1:n.*260_*263del
ENST00000325404.2:c.*260_*263del (SOX2)	ENSP00000323588.1:n.*260_*263del
NM_003106.3:c.*260_*263del (SOX2)	NP_003097.1:n.*260_*263del
NR_004053.3:n.768-1611_768-1608del (SOX2-OT)
NR_075089.1:n.767+13691_767+13694del (SOX2-OT)
NR_075090.1:n.482-25995_482-25992del (SOX2-OT)
NR_075091.1:n.783-1611_783-1608del (SOX2-OT)
NR_075092.1:n.782+13691_782+13694del (SOX2-OT)
NR_075093.1:n.473-25995_473-25992del (SOX2-OT)
NM_003106.4:c.*260_*263del (SOX2) MANE Select	NP_003097.1:n.*260_*263del