Canonical Allele Identifier: CA1424780567

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713500_181713502delinsCCA , CM000665.2:g.181713500_181713502delinsCCA	GRCh38
NC_000003.11:g.181431288_181431290delinsCCA , CM000665.1:g.181431288_181431290delinsCCA	GRCh37
NC_000003.10:g.182913982_182913984delinsCCA	NCBI36
NG_009080.1:g.6567_6569delinsCCA , LRG_719:g.6567_6569delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*186_*188delinsCCA (SOX2) MANE Select	ENSP00000323588.1:n.*186_*188delinsCCA
ENST00000325404.2:c.*186_*188delinsCCA (SOX2)	ENSP00000323588.1:n.*186_*188delinsCCA
NM_003106.3:c.*186_*188delinsCCA (SOX2)	NP_003097.1:n.*186_*188delinsCCA
NR_004053.3:n.768-1685_768-1683delinsCCA (SOX2-OT)
NR_075089.1:n.767+13617_767+13619delinsCCA (SOX2-OT)
NR_075090.1:n.482-26069_482-26067delinsCCA (SOX2-OT)
NR_075091.1:n.783-1685_783-1683delinsCCA (SOX2-OT)
NR_075092.1:n.782+13617_782+13619delinsCCA (SOX2-OT)
NR_075093.1:n.473-26069_473-26067delinsCCA (SOX2-OT)
NM_003106.4:c.*186_*188delinsCCA (SOX2) MANE Select	NP_003097.1:n.*186_*188delinsCCA