Canonical Allele Identifier: CA1424780539

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713481_181713483delinsAAG , CM000665.2:g.181713481_181713483delinsAAG	GRCh38
NC_000003.11:g.181431269_181431271delinsAAG , CM000665.1:g.181431269_181431271delinsAAG	GRCh37
NC_000003.10:g.182913963_182913965delinsAAG	NCBI36
NG_009080.1:g.6548_6550delinsAAG , LRG_719:g.6548_6550delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*167_*169delinsAAG (SOX2) MANE Select	ENSP00000323588.1:n.*167_*169delinsAAG
ENST00000325404.2:c.*167_*169delinsAAG (SOX2)	ENSP00000323588.1:n.*167_*169delinsAAG
NM_003106.3:c.*167_*169delinsAAG (SOX2)	NP_003097.1:n.*167_*169delinsAAG
NR_004053.3:n.768-1704_768-1702delinsAAG (SOX2-OT)
NR_075089.1:n.767+13598_767+13600delinsAAG (SOX2-OT)
NR_075090.1:n.482-26088_482-26086delinsAAG (SOX2-OT)
NR_075091.1:n.783-1704_783-1702delinsAAG (SOX2-OT)
NR_075092.1:n.782+13598_782+13600delinsAAG (SOX2-OT)
NR_075093.1:n.473-26088_473-26086delinsAAG (SOX2-OT)
NM_003106.4:c.*167_*169delinsAAG (SOX2) MANE Select	NP_003097.1:n.*167_*169delinsAAG