Canonical Allele Identifier: CA2668691481

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713431-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713436dup , CM000665.2:g.181713436dup	GRCh38
NC_000003.11:g.181431224dup , CM000665.1:g.181431224dup	GRCh37
NC_000003.10:g.182913918dup	NCBI36
NG_009080.1:g.6503dup , LRG_719:g.6503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*122dup (SOX2) MANE Select	ENSP00000323588.1:n.*122dup
ENST00000325404.2:c.*122dup (SOX2)	ENSP00000323588.1:n.*122dup
NM_003106.3:c.*122dup (SOX2)	NP_003097.1:n.*122dup
NR_004053.3:n.768-1749dup (SOX2-OT)
NR_075089.1:n.767+13553dup (SOX2-OT)
NR_075090.1:n.482-26133dup (SOX2-OT)
NR_075091.1:n.783-1749dup (SOX2-OT)
NR_075092.1:n.782+13553dup (SOX2-OT)
NR_075093.1:n.473-26133dup (SOX2-OT)
NM_003106.4:c.*122dup (SOX2) MANE Select	NP_003097.1:n.*122dup