Canonical Allele Identifier: CA2668691491

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713437-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713438_181713439del , CM000665.2:g.181713438_181713439del	GRCh38
NC_000003.11:g.181431226_181431227del , CM000665.1:g.181431226_181431227del	GRCh37
NC_000003.10:g.182913920_182913921del	NCBI36
NG_009080.1:g.6505_6506del , LRG_719:g.6505_6506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*124_*125del (SOX2) MANE Select	ENSP00000323588.1:n.*124_*125del
ENST00000325404.2:c.*124_*125del (SOX2)	ENSP00000323588.1:n.*124_*125del
NM_003106.3:c.*124_*125del (SOX2)	NP_003097.1:n.*124_*125del
NR_004053.3:n.768-1747_768-1746del (SOX2-OT)
NR_075089.1:n.767+13555_767+13556del (SOX2-OT)
NR_075090.1:n.482-26131_482-26130del (SOX2-OT)
NR_075091.1:n.783-1747_783-1746del (SOX2-OT)
NR_075092.1:n.782+13555_782+13556del (SOX2-OT)
NR_075093.1:n.473-26131_473-26130del (SOX2-OT)
NM_003106.4:c.*124_*125del (SOX2) MANE Select	NP_003097.1:n.*124_*125del