Canonical Allele Identifier: CA2668691667

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713585-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713585_181713586insTT , CM000665.2:g.181713585_181713586insTT	GRCh38
NC_000003.11:g.181431373_181431374insTT , CM000665.1:g.181431373_181431374insTT	GRCh37
NC_000003.10:g.182914067_182914068insTT	NCBI36
NG_009080.1:g.6652_6653insTT , LRG_719:g.6652_6653insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*271_*272insTT (SOX2) MANE Select	ENSP00000323588.1:n.*271_*272insTT
ENST00000325404.2:c.*271_*272insTT (SOX2)	ENSP00000323588.1:n.*271_*272insTT
NM_003106.3:c.*271_*272insTT (SOX2)	NP_003097.1:n.*271_*272insTT
NR_004053.3:n.768-1600_768-1599insTT (SOX2-OT)
NR_075089.1:n.767+13702_767+13703insTT (SOX2-OT)
NR_075090.1:n.482-25984_482-25983insTT (SOX2-OT)
NR_075091.1:n.783-1600_783-1599insTT (SOX2-OT)
NR_075092.1:n.782+13702_782+13703insTT (SOX2-OT)
NR_075093.1:n.473-25984_473-25983insTT (SOX2-OT)
NM_003106.4:c.*271_*272insTT (SOX2) MANE Select	NP_003097.1:n.*271_*272insTT