Canonical Allele Identifier: CA1424779668
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712899_181712900delinsAC , CM000665.2:g.181712899_181712900delinsAC GRCh38
NC_000003.11:g.181430687_181430688delinsAC , CM000665.1:g.181430687_181430688delinsAC GRCh37
NC_000003.10:g.182913381_182913382delinsAC NCBI36
NG_009080.1:g.5966_5967delinsAC , LRG_719:g.5966_5967delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.539_540delinsAC (SOX2) MANE Select ENSP00000323588.1:p.Tyr180=
ENST00000325404.2:c.539_540delinsAC (SOX2) ENSP00000323588.1:p.Tyr180=
NM_003106.3:c.539_540delinsAC (SOX2) NP_003097.1:p.Tyr180=
NR_004053.3:n.768-2286_768-2285delinsAC (SOX2-OT)
NR_075089.1:n.767+13016_767+13017delinsAC (SOX2-OT)
NR_075090.1:n.482-26670_482-26669delinsAC (SOX2-OT)
NR_075091.1:n.783-2286_783-2285delinsAC (SOX2-OT)
NR_075092.1:n.782+13016_782+13017delinsAC (SOX2-OT)
NR_075093.1:n.473-26670_473-26669delinsAC (SOX2-OT)
NM_003106.4:c.539_540delinsAC (SOX2) MANE Select NP_003097.1:p.Tyr180=