Canonical Allele Identifier: CA1424780650

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713567_181713568delinsTG , CM000665.2:g.181713567_181713568delinsTG	GRCh38
NC_000003.11:g.181431355_181431356delinsTG , CM000665.1:g.181431355_181431356delinsTG	GRCh37
NC_000003.10:g.182914049_182914050delinsTG	NCBI36
NG_009080.1:g.6634_6635delinsTG , LRG_719:g.6634_6635delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*253_*254delinsTG (SOX2) MANE Select	ENSP00000323588.1:n.*253_*254delinsTG
ENST00000325404.2:c.*253_*254delinsTG (SOX2)	ENSP00000323588.1:n.*253_*254delinsTG
NM_003106.3:c.*253_*254delinsTG (SOX2)	NP_003097.1:n.*253_*254delinsTG
NR_004053.3:n.768-1618_768-1617delinsTG (SOX2-OT)
NR_075089.1:n.767+13684_767+13685delinsTG (SOX2-OT)
NR_075090.1:n.482-26002_482-26001delinsTG (SOX2-OT)
NR_075091.1:n.783-1618_783-1617delinsTG (SOX2-OT)
NR_075092.1:n.782+13684_782+13685delinsTG (SOX2-OT)
NR_075093.1:n.473-26002_473-26001delinsTG (SOX2-OT)
NM_003106.4:c.*253_*254delinsTG (SOX2) MANE Select	NP_003097.1:n.*253_*254delinsTG