Canonical Allele Identifier: CA2668691475

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713425-CAAAAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713430_181713436del , CM000665.2:g.181713430_181713436del	GRCh38
NC_000003.11:g.181431218_181431224del , CM000665.1:g.181431218_181431224del	GRCh37
NC_000003.10:g.182913912_182913918del	NCBI36
NG_009080.1:g.6497_6503del , LRG_719:g.6497_6503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*116_*122del (SOX2) MANE Select	ENSP00000323588.1:n.*116_*122del
ENST00000325404.2:c.*116_*122del (SOX2)	ENSP00000323588.1:n.*116_*122del
NM_003106.3:c.*116_*122del (SOX2)	NP_003097.1:n.*116_*122del
NR_004053.3:n.768-1755_768-1749del (SOX2-OT)
NR_075089.1:n.767+13547_767+13553del (SOX2-OT)
NR_075090.1:n.482-26139_482-26133del (SOX2-OT)
NR_075091.1:n.783-1755_783-1749del (SOX2-OT)
NR_075092.1:n.782+13547_782+13553del (SOX2-OT)
NR_075093.1:n.473-26139_473-26133del (SOX2-OT)
NM_003106.4:c.*116_*122del (SOX2) MANE Select	NP_003097.1:n.*116_*122del