Canonical Allele Identifier: CA2569414315

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712817_181712818insC , CM000665.2:g.181712817_181712818insC	GRCh38
NC_000003.11:g.181430605_181430606insC , CM000665.1:g.181430605_181430606insC	GRCh37
NC_000003.10:g.182913299_182913300insC	NCBI36
NG_009080.1:g.5884_5885insC , LRG_719:g.5884_5885insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.457_458insC (SOX2) MANE Select	ENSP00000323588.1:p.Val153AlafsTer?
ENST00000325404.2:c.457_458insC (SOX2)	ENSP00000323588.1:p.Val153AlafsTer?
NM_003106.3:c.457_458insC (SOX2)	NP_003097.1:p.Val153AlafsTer?
NR_004053.3:n.768-2368_768-2367insC (SOX2-OT)
NR_075089.1:n.767+12934_767+12935insC (SOX2-OT)
NR_075090.1:n.482-26752_482-26751insC (SOX2-OT)
NR_075091.1:n.783-2368_783-2367insC (SOX2-OT)
NR_075092.1:n.782+12934_782+12935insC (SOX2-OT)
NR_075093.1:n.473-26752_473-26751insC (SOX2-OT)
NM_003106.4:c.457_458insC (SOX2) MANE Select	NP_003097.1:p.Val153AlafsTer?