Canonical Allele Identifier: CA2668691496

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713438-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713448_181713449del , CM000665.2:g.181713448_181713449del	GRCh38
NC_000003.11:g.181431236_181431237del , CM000665.1:g.181431236_181431237del	GRCh37
NC_000003.10:g.182913930_182913931del	NCBI36
NG_009080.1:g.6515_6516del , LRG_719:g.6515_6516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*134_*135del (SOX2) MANE Select	ENSP00000323588.1:n.*134_*135del
ENST00000325404.2:c.*134_*135del (SOX2)	ENSP00000323588.1:n.*134_*135del
NM_003106.3:c.*134_*135del (SOX2)	NP_003097.1:n.*134_*135del
NR_004053.3:n.768-1737_768-1736del (SOX2-OT)
NR_075089.1:n.767+13565_767+13566del (SOX2-OT)
NR_075090.1:n.482-26121_482-26120del (SOX2-OT)
NR_075091.1:n.783-1737_783-1736del (SOX2-OT)
NR_075092.1:n.782+13565_782+13566del (SOX2-OT)
NR_075093.1:n.473-26121_473-26120del (SOX2-OT)
NM_003106.4:c.*134_*135del (SOX2) MANE Select	NP_003097.1:n.*134_*135del