Canonical Allele Identifier: CA2586973211

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712664_181712677del , CM000665.2:g.181712664_181712677del	GRCh38
NC_000003.11:g.181430452_181430465del , CM000665.1:g.181430452_181430465del	GRCh37
NC_000003.10:g.182913146_182913159del	NCBI36
NG_009080.1:g.5731_5744del , LRG_719:g.5731_5744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.304_317del (SOX2) MANE Select	ENSP00000323588.1:p.Met102GlyfsTer3
ENST00000325404.2:c.304_317del (SOX2)	ENSP00000323588.1:p.Met102GlyfsTer3
NM_003106.3:c.304_317del (SOX2)	NP_003097.1:p.Met102GlyfsTer3
NR_004053.3:n.768-2521_768-2508del (SOX2-OT)
NR_075089.1:n.767+12781_767+12794del (SOX2-OT)
NR_075090.1:n.482-26905_482-26892del (SOX2-OT)
NR_075091.1:n.783-2521_783-2508del (SOX2-OT)
NR_075092.1:n.782+12781_782+12794del (SOX2-OT)
NR_075093.1:n.473-26905_473-26892del (SOX2-OT)
NM_003106.4:c.304_317del (SOX2) MANE Select	NP_003097.1:p.Met102GlyfsTer3