Canonical Allele Identifier: CA2759648126

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713452_181713453insAAA , CM000665.2:g.181713452_181713453insAAA	GRCh38
NC_000003.11:g.181431240_181431241insAAA , CM000665.1:g.181431240_181431241insAAA	GRCh37
NC_000003.10:g.182913934_182913935insAAA	NCBI36
NG_009080.1:g.6519_6520insAAA , LRG_719:g.6519_6520insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*138_*139insAAA (SOX2) MANE Select	ENSP00000323588.1:n.*138_*139insAAA
ENST00000325404.2:c.*138_*139insAAA (SOX2)	ENSP00000323588.1:n.*138_*139insAAA
NM_003106.3:c.*138_*139insAAA (SOX2)	NP_003097.1:n.*138_*139insAAA
NR_004053.3:n.768-1733_768-1732insAAA (SOX2-OT)
NR_075089.1:n.767+13569_767+13570insAAA (SOX2-OT)
NR_075090.1:n.482-26117_482-26116insAAA (SOX2-OT)
NR_075091.1:n.783-1733_783-1732insAAA (SOX2-OT)
NR_075092.1:n.782+13569_782+13570insAAA (SOX2-OT)
NR_075093.1:n.473-26117_473-26116insAAA (SOX2-OT)
NM_003106.4:c.*138_*139insAAA (SOX2) MANE Select	NP_003097.1:n.*138_*139insAAA