Canonical Allele Identifier: CA1424780569
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713502_181713506delinsACACT , CM000665.2:g.181713502_181713506delinsACACT GRCh38
NC_000003.11:g.181431290_181431294delinsACACT , CM000665.1:g.181431290_181431294delinsACACT GRCh37
NC_000003.10:g.182913984_182913988delinsACACT NCBI36
NG_009080.1:g.6569_6573delinsACACT , LRG_719:g.6569_6573delinsACACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.*188_*192delinsACACT (SOX2) MANE Select ENSP00000323588.1:n.*188_*192delinsACACT
ENST00000325404.2:c.*188_*192delinsACACT (SOX2) ENSP00000323588.1:n.*188_*192delinsACACT
NM_003106.3:c.*188_*192delinsACACT (SOX2) NP_003097.1:n.*188_*192delinsACACT
NR_004053.3:n.768-1683_768-1679delinsACACT (SOX2-OT)
NR_075089.1:n.767+13619_767+13623delinsACACT (SOX2-OT)
NR_075090.1:n.482-26067_482-26063delinsACACT (SOX2-OT)
NR_075091.1:n.783-1683_783-1679delinsACACT (SOX2-OT)
NR_075092.1:n.782+13619_782+13623delinsACACT (SOX2-OT)
NR_075093.1:n.473-26067_473-26063delinsACACT (SOX2-OT)
NM_003106.4:c.*188_*192delinsACACT (SOX2) MANE Select NP_003097.1:n.*188_*192delinsACACT