Canonical Allele Identifier: CA1424780482
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713395_181713396delinsAG , CM000665.2:g.181713395_181713396delinsAG GRCh38
NC_000003.11:g.181431183_181431184delinsAG , CM000665.1:g.181431183_181431184delinsAG GRCh37
NC_000003.10:g.182913877_182913878delinsAG NCBI36
NG_009080.1:g.6462_6463delinsAG , LRG_719:g.6462_6463delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*81_*82delinsAG (SOX2) MANE Select ENSP00000323588.1:n.*81_*82delinsAG
ENST00000325404.2:c.*81_*82delinsAG (SOX2) ENSP00000323588.1:n.*81_*82delinsAG
NM_003106.3:c.*81_*82delinsAG (SOX2) NP_003097.1:n.*81_*82delinsAG
NR_004053.3:n.768-1790_768-1789delinsAG (SOX2-OT)
NR_075089.1:n.767+13512_767+13513delinsAG (SOX2-OT)
NR_075090.1:n.482-26174_482-26173delinsAG (SOX2-OT)
NR_075091.1:n.783-1790_783-1789delinsAG (SOX2-OT)
NR_075092.1:n.782+13512_782+13513delinsAG (SOX2-OT)
NR_075093.1:n.473-26174_473-26173delinsAG (SOX2-OT)
NM_003106.4:c.*81_*82delinsAG (SOX2) MANE Select NP_003097.1:n.*81_*82delinsAG