Canonical Allele Identifier: CA1424779101

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712503_181712504delinsTC , CM000665.2:g.181712503_181712504delinsTC	GRCh38
NC_000003.11:g.181430291_181430292delinsTC , CM000665.1:g.181430291_181430292delinsTC	GRCh37
NC_000003.10:g.182912985_182912986delinsTC	NCBI36
NG_009080.1:g.5570_5571delinsTC , LRG_719:g.5570_5571delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.143_144delinsTC (SOX2) MANE Select	ENSP00000323588.1:p.Phe48=
ENST00000325404.2:c.143_144delinsTC (SOX2)	ENSP00000323588.1:p.Phe48=
NM_003106.3:c.143_144delinsTC (SOX2)	NP_003097.1:p.Phe48=
NR_004053.3:n.768-2682_768-2681delinsTC (SOX2-OT)
NR_075089.1:n.767+12620_767+12621delinsTC (SOX2-OT)
NR_075090.1:n.482-27066_482-27065delinsTC (SOX2-OT)
NR_075091.1:n.783-2682_783-2681delinsTC (SOX2-OT)
NR_075092.1:n.782+12620_782+12621delinsTC (SOX2-OT)
NR_075093.1:n.473-27066_473-27065delinsTC (SOX2-OT)
NM_003106.4:c.143_144delinsTC (SOX2) MANE Select	NP_003097.1:p.Phe48=