Canonical Allele Identifier: CA437335189
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.181430583G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712795G>T , CM000665.2:g.181712795G>T GRCh38
NC_000003.11:g.181430583G>T , CM000665.1:g.181430583G>T GRCh37
NC_000003.10:g.182913277G>T NCBI36
NG_009080.1:g.5862G>T , LRG_719:g.5862G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.435G>T (SOX2) MANE Select ENSP00000323588.1:p.Val145=
ENST00000325404.2:c.435G>T (SOX2) ENSP00000323588.1:p.Val145=
NM_003106.3:c.435G>T (SOX2) NP_003097.1:p.Val145=
NR_004053.3:n.768-2390G>T (SOX2-OT)
NR_075089.1:n.767+12912G>T (SOX2-OT)
NR_075090.1:n.482-26774G>T (SOX2-OT)
NR_075091.1:n.783-2390G>T (SOX2-OT)
NR_075092.1:n.782+12912G>T (SOX2-OT)
NR_075093.1:n.473-26774G>T (SOX2-OT)
NM_003106.4:c.435G>T (SOX2) MANE Select NP_003097.1:p.Val145=