Canonical Allele Identifier: CA355474368
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs2108523059
gnomAD v4: 3-181713015-G-A
COSMIC: COSM4796652
MyVariant Identifiers: chr3:g.181430803G>A (hg19) chr3:g.181713015G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713015G>A , CM000665.2:g.181713015G>A GRCh38
NC_000003.11:g.181430803G>A , CM000665.1:g.181430803G>A GRCh37
NC_000003.10:g.182913497G>A NCBI36
NG_009080.1:g.6082G>A , LRG_719:g.6082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.655G>A (SOX2) MANE Select ENSP00000323588.1:p.Gly219Ser
ENST00000325404.2:c.655G>A (SOX2) ENSP00000323588.1:p.Gly219Ser
NM_003106.3:c.655G>A (SOX2) NP_003097.1:p.Gly219Ser
NR_004053.3:n.768-2170G>A (SOX2-OT)
NR_075089.1:n.767+13132G>A (SOX2-OT)
NR_075090.1:n.482-26554G>A (SOX2-OT)
NR_075091.1:n.783-2170G>A (SOX2-OT)
NR_075092.1:n.782+13132G>A (SOX2-OT)
NR_075093.1:n.473-26554G>A (SOX2-OT)
NM_003106.4:c.655G>A (SOX2) MANE Select NP_003097.1:p.Gly219Ser
Search 100 bp 5'
Search 100 bp 3'