Canonical Allele Identifier: CA437221748

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1576853829
• gnomAD v4: 3-181713302-C-G
• MyVariant Identifiers: chr3:g.181431090C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713302C>G , CM000665.2:g.181713302C>G	GRCh38
NC_000003.11:g.181431090C>G , CM000665.1:g.181431090C>G	GRCh37
NC_000003.10:g.182913784C>G	NCBI36
NG_009080.1:g.6369C>G , LRG_719:g.6369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.942C>G (SOX2) MANE Select	ENSP00000323588.1:p.Leu314=
ENST00000325404.2:c.942C>G (SOX2)	ENSP00000323588.1:p.Leu314=
NM_003106.3:c.942C>G (SOX2)	NP_003097.1:p.Leu314=
NR_004053.3:n.768-1883C>G (SOX2-OT)
NR_075089.1:n.767+13419C>G (SOX2-OT)
NR_075090.1:n.482-26267C>G (SOX2-OT)
NR_075091.1:n.783-1883C>G (SOX2-OT)
NR_075092.1:n.782+13419C>G (SOX2-OT)
NR_075093.1:n.473-26267C>G (SOX2-OT)
NM_003106.4:c.942C>G (SOX2) MANE Select	NP_003097.1:p.Leu314=