Canonical Allele Identifier: CA437335110

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs2108521813
• MyVariant Identifiers: chr3:g.181430361C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181712573C>T , CM000665.2:g.181712573C>T	GRCh38
NC_000003.11:g.181430361C>T , CM000665.1:g.181430361C>T	GRCh37
NC_000003.10:g.182913055C>T	NCBI36
NG_009080.1:g.5640C>T , LRG_719:g.5640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.213C>T (SOX2) MANE Select	ENSP00000323588.1:p.Ile71=
ENST00000325404.2:c.213C>T (SOX2)	ENSP00000323588.1:p.Ile71=
NM_003106.3:c.213C>T (SOX2)	NP_003097.1:p.Ile71=
NR_004053.3:n.768-2612C>T (SOX2-OT)
NR_075089.1:n.767+12690C>T (SOX2-OT)
NR_075090.1:n.482-26996C>T (SOX2-OT)
NR_075091.1:n.783-2612C>T (SOX2-OT)
NR_075092.1:n.782+12690C>T (SOX2-OT)
NR_075093.1:n.473-26996C>T (SOX2-OT)
NM_003106.4:c.213C>T (SOX2) MANE Select	NP_003097.1:p.Ile71=