Canonical Allele Identifier: CA1424780510

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713425_181713431delinsCAAAAAG , CM000665.2:g.181713425_181713431delinsCAAAAAG	GRCh38
NC_000003.11:g.181431213_181431219delinsCAAAAAG , CM000665.1:g.181431213_181431219delinsCAAAAAG	GRCh37
NC_000003.10:g.182913907_182913913delinsCAAAAAG	NCBI36
NG_009080.1:g.6492_6498delinsCAAAAAG , LRG_719:g.6492_6498delinsCAAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*111_*117delinsCAAAAAG (SOX2) MANE Select	ENSP00000323588.1:n.*111_*117delinsCAAAAAG
ENST00000325404.2:c.*111_*117delinsCAAAAAG (SOX2)	ENSP00000323588.1:n.*111_*117delinsCAAAAAG
NM_003106.3:c.*111_*117delinsCAAAAAG (SOX2)	NP_003097.1:n.*111_*117delinsCAAAAAG
NR_004053.3:n.768-1760_768-1754delinsCAAAAAG (SOX2-OT)
NR_075089.1:n.767+13542_767+13548delinsCAAAAAG (SOX2-OT)
NR_075090.1:n.482-26144_482-26138delinsCAAAAAG (SOX2-OT)
NR_075091.1:n.783-1760_783-1754delinsCAAAAAG (SOX2-OT)
NR_075092.1:n.782+13542_782+13548delinsCAAAAAG (SOX2-OT)
NR_075093.1:n.473-26144_473-26138delinsCAAAAAG (SOX2-OT)
NM_003106.4:c.*111_*117delinsCAAAAAG (SOX2) MANE Select	NP_003097.1:n.*111_*117delinsCAAAAAG