Canonical Allele Identifier: CA2668691664

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713584-A-AACT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713584_181713585insACT , CM000665.2:g.181713584_181713585insACT	GRCh38
NC_000003.11:g.181431372_181431373insACT , CM000665.1:g.181431372_181431373insACT	GRCh37
NC_000003.10:g.182914066_182914067insACT	NCBI36
NG_009080.1:g.6651_6652insACT , LRG_719:g.6651_6652insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*270_*271insACT (SOX2) MANE Select	ENSP00000323588.1:n.*270_*271insACT
ENST00000325404.2:c.*270_*271insACT (SOX2)	ENSP00000323588.1:n.*270_*271insACT
NM_003106.3:c.*270_*271insACT (SOX2)	NP_003097.1:n.*270_*271insACT
NR_004053.3:n.768-1601_768-1600insACT (SOX2-OT)
NR_075089.1:n.767+13701_767+13702insACT (SOX2-OT)
NR_075090.1:n.482-25985_482-25984insACT (SOX2-OT)
NR_075091.1:n.783-1601_783-1600insACT (SOX2-OT)
NR_075092.1:n.782+13701_782+13702insACT (SOX2-OT)
NR_075093.1:n.473-25985_473-25984insACT (SOX2-OT)
NM_003106.4:c.*270_*271insACT (SOX2) MANE Select	NP_003097.1:n.*270_*271insACT