Canonical Allele Identifier: CA891842875

Gene: SOX2 SOX2-OT

Linked Data

• ClinVar Variation Id: 581870
• ClinVar RCV Id: RCV000705815
• dbSNP Id: rs1560264167
• MyVariant Identifiers: chr3:g.181430215_181430237dup (hg19) ; chr3:g.181712427_181712449dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712427_181712449dup , CM000665.2:g.181712427_181712449dup	GRCh38
NC_000003.11:g.181430215_181430237dup , CM000665.1:g.181430215_181430237dup	GRCh37
NC_000003.10:g.182912909_182912931dup	NCBI36
NG_009080.1:g.5494_5516dup , LRG_719:g.5494_5516dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.67_89dup (SOX2) MANE Select	ENSP00000323588.1:p.Gly31AlafsTer23
ENST00000325404.2:c.67_89dup (SOX2)	ENSP00000323588.1:p.Gly31AlafsTer23
NM_003106.3:c.67_89dup (SOX2)	NP_003097.1:p.Gly31AlafsTer23
NR_004053.3:n.768-2758_768-2736dup (SOX2-OT)
NR_075089.1:n.767+12544_767+12566dup (SOX2-OT)
NR_075090.1:n.482-27142_482-27120dup (SOX2-OT)
NR_075091.1:n.783-2758_783-2736dup (SOX2-OT)
NR_075092.1:n.782+12544_782+12566dup (SOX2-OT)
NR_075093.1:n.473-27142_473-27120dup (SOX2-OT)
NM_003106.4:c.67_89dup (SOX2) MANE Select	NP_003097.1:p.Gly31AlafsTer23