Canonical Allele Identifier: CA355474558

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs778665464
• MyVariant Identifiers: chr3:g.181430890G>A (hg19) ; chr3:g.181713102G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713102G>A , CM000665.2:g.181713102G>A	GRCh38
NC_000003.11:g.181430890G>A , CM000665.1:g.181430890G>A	GRCh37
NC_000003.10:g.182913584G>A	NCBI36
NG_009080.1:g.6169G>A , LRG_719:g.6169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.742G>A (SOX2) MANE Select	ENSP00000323588.1:p.Ala248Thr
ENST00000325404.2:c.742G>A (SOX2)	ENSP00000323588.1:p.Ala248Thr
NM_003106.3:c.742G>A (SOX2)	NP_003097.1:p.Ala248Thr
NR_004053.3:n.768-2083G>A (SOX2-OT)
NR_075089.1:n.767+13219G>A (SOX2-OT)
NR_075090.1:n.482-26467G>A (SOX2-OT)
NR_075091.1:n.783-2083G>A (SOX2-OT)
NR_075092.1:n.782+13219G>A (SOX2-OT)
NR_075093.1:n.473-26467G>A (SOX2-OT)
NM_003106.4:c.742G>A (SOX2) MANE Select	NP_003097.1:p.Ala248Thr