Canonical Allele Identifier: CA2668691588

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713532-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713532G>T , CM000665.2:g.181713532G>T	GRCh38
NC_000003.11:g.181431320G>T , CM000665.1:g.181431320G>T	GRCh37
NC_000003.10:g.182914014G>T	NCBI36
NG_009080.1:g.6599G>T , LRG_719:g.6599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*218G>T (SOX2) MANE Select	ENSP00000323588.1:n.*218G>T
ENST00000325404.2:c.*218G>T (SOX2)	ENSP00000323588.1:n.*218G>T
NM_003106.3:c.*218G>T (SOX2)	NP_003097.1:n.*218G>T
NR_004053.3:n.768-1653G>T (SOX2-OT)
NR_075089.1:n.767+13649G>T (SOX2-OT)
NR_075090.1:n.482-26037G>T (SOX2-OT)
NR_075091.1:n.783-1653G>T (SOX2-OT)
NR_075092.1:n.782+13649G>T (SOX2-OT)
NR_075093.1:n.473-26037G>T (SOX2-OT)
NM_003106.4:c.*218G>T (SOX2) MANE Select	NP_003097.1:n.*218G>T