Canonical Allele Identifier: CA1424779202

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712601_181712603delinsCTT , CM000665.2:g.181712601_181712603delinsCTT	GRCh38
NC_000003.11:g.181430389_181430391delinsCTT , CM000665.1:g.181430389_181430391delinsCTT	GRCh37
NC_000003.10:g.182913083_182913085delinsCTT	NCBI36
NG_009080.1:g.5668_5670delinsCTT , LRG_719:g.5668_5670delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.241_243delinsCTT (SOX2) MANE Select	ENSP00000323588.1:p.Leu81=
ENST00000325404.2:c.241_243delinsCTT (SOX2)	ENSP00000323588.1:p.Leu81=
NM_003106.3:c.241_243delinsCTT (SOX2)	NP_003097.1:p.Leu81=
NR_004053.3:n.768-2584_768-2582delinsCTT (SOX2-OT)
NR_075089.1:n.767+12718_767+12720delinsCTT (SOX2-OT)
NR_075090.1:n.482-26968_482-26966delinsCTT (SOX2-OT)
NR_075091.1:n.783-2584_783-2582delinsCTT (SOX2-OT)
NR_075092.1:n.782+12718_782+12720delinsCTT (SOX2-OT)
NR_075093.1:n.473-26968_473-26966delinsCTT (SOX2-OT)
NM_003106.4:c.241_243delinsCTT (SOX2) MANE Select	NP_003097.1:p.Leu81=