Canonical Allele Identifier: CA2668691790

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713614-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713614_181713615insCG , CM000665.2:g.181713614_181713615insCG	GRCh38
NC_000003.11:g.181431402_181431403insCG , CM000665.1:g.181431402_181431403insCG	GRCh37
NC_000003.10:g.182914096_182914097insCG	NCBI36
NG_009080.1:g.6681_6682insCG , LRG_719:g.6681_6682insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*300_*301insCG (SOX2) MANE Select	ENSP00000323588.1:n.*300_*301insCG
ENST00000325404.2:c.*300_*301insCG (SOX2)	ENSP00000323588.1:n.*300_*301insCG
NM_003106.3:c.*300_*301insCG (SOX2)	NP_003097.1:n.*300_*301insCG
NR_004053.3:n.768-1571_768-1570insCG (SOX2-OT)
NR_075089.1:n.767+13731_767+13732insCG (SOX2-OT)
NR_075090.1:n.482-25955_482-25954insCG (SOX2-OT)
NR_075091.1:n.783-1571_783-1570insCG (SOX2-OT)
NR_075092.1:n.782+13731_782+13732insCG (SOX2-OT)
NR_075093.1:n.473-25955_473-25954insCG (SOX2-OT)
NM_003106.4:c.*300_*301insCG (SOX2) MANE Select	NP_003097.1:n.*300_*301insCG