Canonical Allele Identifier: CA1424780451

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713354_181713355delinsGA , CM000665.2:g.181713354_181713355delinsGA	GRCh38
NC_000003.11:g.181431142_181431143delinsGA , CM000665.1:g.181431142_181431143delinsGA	GRCh37
NC_000003.10:g.182913836_182913837delinsGA	NCBI36
NG_009080.1:g.6421_6422delinsGA , LRG_719:g.6421_6422delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*40_*41delinsGA (SOX2) MANE Select	ENSP00000323588.1:n.*40_*41delinsGA
ENST00000325404.2:c.*40_*41delinsGA (SOX2)	ENSP00000323588.1:n.*40_*41delinsGA
NM_003106.3:c.*40_*41delinsGA (SOX2)	NP_003097.1:n.*40_*41delinsGA
NR_004053.3:n.768-1831_768-1830delinsGA (SOX2-OT)
NR_075089.1:n.767+13471_767+13472delinsGA (SOX2-OT)
NR_075090.1:n.482-26215_482-26214delinsGA (SOX2-OT)
NR_075091.1:n.783-1831_783-1830delinsGA (SOX2-OT)
NR_075092.1:n.782+13471_782+13472delinsGA (SOX2-OT)
NR_075093.1:n.473-26215_473-26214delinsGA (SOX2-OT)
NM_003106.4:c.*40_*41delinsGA (SOX2) MANE Select	NP_003097.1:n.*40_*41delinsGA