Canonical Allele Identifier: CA2586973206

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712518_181712533delinsAT , CM000665.2:g.181712518_181712533delinsAT	GRCh38
NC_000003.11:g.181430306_181430321delinsAT , CM000665.1:g.181430306_181430321delinsAT	GRCh37
NC_000003.10:g.182913000_182913015delinsAT	NCBI36
NG_009080.1:g.5585_5600delinsAT , LRG_719:g.5585_5600delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.158_173delinsAT (SOX2) MANE Select	ENSP00000323588.1:p.Arg53HisfsTer?
ENST00000325404.2:c.158_173delinsAT (SOX2)	ENSP00000323588.1:p.Arg53HisfsTer?
NM_003106.3:c.158_173delinsAT (SOX2)	NP_003097.1:p.Arg53HisfsTer?
NR_004053.3:n.768-2667_768-2652delinsAT (SOX2-OT)
NR_075089.1:n.767+12635_767+12650delinsAT (SOX2-OT)
NR_075090.1:n.482-27051_482-27036delinsAT (SOX2-OT)
NR_075091.1:n.783-2667_783-2652delinsAT (SOX2-OT)
NR_075092.1:n.782+12635_782+12650delinsAT (SOX2-OT)
NR_075093.1:n.473-27051_473-27036delinsAT (SOX2-OT)
NM_003106.4:c.158_173delinsAT (SOX2) MANE Select	NP_003097.1:p.Arg53HisfsTer?