Canonical Allele Identifier: CA1424780637

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713561_181713562delinsTC , CM000665.2:g.181713561_181713562delinsTC	GRCh38
NC_000003.11:g.181431349_181431350delinsTC , CM000665.1:g.181431349_181431350delinsTC	GRCh37
NC_000003.10:g.182914043_182914044delinsTC	NCBI36
NG_009080.1:g.6628_6629delinsTC , LRG_719:g.6628_6629delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*247_*248delinsTC (SOX2) MANE Select	ENSP00000323588.1:n.*247_*248delinsTC
ENST00000325404.2:c.*247_*248delinsTC (SOX2)	ENSP00000323588.1:n.*247_*248delinsTC
NM_003106.3:c.*247_*248delinsTC (SOX2)	NP_003097.1:n.*247_*248delinsTC
NR_004053.3:n.768-1624_768-1623delinsTC (SOX2-OT)
NR_075089.1:n.767+13678_767+13679delinsTC (SOX2-OT)
NR_075090.1:n.482-26008_482-26007delinsTC (SOX2-OT)
NR_075091.1:n.783-1624_783-1623delinsTC (SOX2-OT)
NR_075092.1:n.782+13678_782+13679delinsTC (SOX2-OT)
NR_075093.1:n.473-26008_473-26007delinsTC (SOX2-OT)
NM_003106.4:c.*247_*248delinsTC (SOX2) MANE Select	NP_003097.1:n.*247_*248delinsTC