Canonical Allele Identifier: CA1424780562

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1576854066
• gnomAD v4: 3-181713494-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713494T>C , CM000665.2:g.181713494T>C	GRCh38
NC_000003.11:g.181431282T>C , CM000665.1:g.181431282T>C	GRCh37
NC_000003.10:g.182913976T>C	NCBI36
NG_009080.1:g.6561T>C , LRG_719:g.6561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*180T>C (SOX2) MANE Select	ENSP00000323588.1:n.*180T>C
ENST00000325404.2:c.*180T>C (SOX2)	ENSP00000323588.1:n.*180T>C
NM_003106.3:c.*180T>C (SOX2)	NP_003097.1:n.*180T>C
NR_004053.3:n.768-1691T>C (SOX2-OT)
NR_075089.1:n.767+13611T>C (SOX2-OT)
NR_075090.1:n.482-26075T>C (SOX2-OT)
NR_075091.1:n.783-1691T>C (SOX2-OT)
NR_075092.1:n.782+13611T>C (SOX2-OT)
NR_075093.1:n.473-26075T>C (SOX2-OT)
NM_003106.4:c.*180T>C (SOX2) MANE Select	NP_003097.1:n.*180T>C