Canonical Allele Identifier: CA2668691363

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181712331-CGGCGGGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712335_181712343del , CM000665.2:g.181712335_181712343del	GRCh38
NC_000003.11:g.181430123_181430131del , CM000665.1:g.181430123_181430131del	GRCh37
NC_000003.10:g.182912817_182912825del	NCBI36
NG_009080.1:g.5402_5410del , LRG_719:g.5402_5410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.-26_-18del (SOX2) MANE Select	ENSP00000323588.1:n.-26_-18del
ENST00000325404.2:c.-26_-18del (SOX2)	ENSP00000323588.1:n.-26_-18del
NM_003106.3:c.-26_-18del (SOX2)	NP_003097.1:n.-26_-18del
NR_004053.3:n.768-2850_768-2842del (SOX2-OT)
NR_075089.1:n.767+12452_767+12460del (SOX2-OT)
NR_075090.1:n.482-27234_482-27226del (SOX2-OT)
NR_075091.1:n.783-2850_783-2842del (SOX2-OT)
NR_075092.1:n.782+12452_782+12460del (SOX2-OT)
NR_075093.1:n.473-27234_473-27226del (SOX2-OT)
NM_003106.4:c.-26_-18del (SOX2) MANE Select	NP_003097.1:n.-26_-18del