Canonical Allele Identifier: CA2668691437

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713384-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713388_181713390del , CM000665.2:g.181713388_181713390del	GRCh38
NC_000003.11:g.181431176_181431178del , CM000665.1:g.181431176_181431178del	GRCh37
NC_000003.10:g.182913870_182913872del	NCBI36
NG_009080.1:g.6455_6457del , LRG_719:g.6455_6457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*74_*76del (SOX2) MANE Select	ENSP00000323588.1:n.*74_*76del
ENST00000325404.2:c.*74_*76del (SOX2)	ENSP00000323588.1:n.*74_*76del
NM_003106.3:c.*74_*76del (SOX2)	NP_003097.1:n.*74_*76del
NR_004053.3:n.768-1797_768-1795del (SOX2-OT)
NR_075089.1:n.767+13505_767+13507del (SOX2-OT)
NR_075090.1:n.482-26181_482-26179del (SOX2-OT)
NR_075091.1:n.783-1797_783-1795del (SOX2-OT)
NR_075092.1:n.782+13505_782+13507del (SOX2-OT)
NR_075093.1:n.473-26181_473-26179del (SOX2-OT)
NM_003106.4:c.*74_*76del (SOX2) MANE Select	NP_003097.1:n.*74_*76del