Canonical Allele Identifier: CA2759648160

Gene: SOX2 SOX2-OT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713556G>C , CM000665.2:g.181713556G>C	GRCh38
NC_000003.11:g.181431344G>C , CM000665.1:g.181431344G>C	GRCh37
NC_000003.10:g.182914038G>C	NCBI36
NG_009080.1:g.6623G>C , LRG_719:g.6623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*242G>C (SOX2) MANE Select	ENSP00000323588.1:n.*242G>C
ENST00000325404.2:c.*242G>C (SOX2)	ENSP00000323588.1:n.*242G>C
NM_003106.3:c.*242G>C (SOX2)	NP_003097.1:n.*242G>C
NR_004053.3:n.768-1629G>C (SOX2-OT)
NR_075089.1:n.767+13673G>C (SOX2-OT)
NR_075090.1:n.482-26013G>C (SOX2-OT)
NR_075091.1:n.783-1629G>C (SOX2-OT)
NR_075092.1:n.782+13673G>C (SOX2-OT)
NR_075093.1:n.473-26013G>C (SOX2-OT)
NM_003106.4:c.*242G>C (SOX2) MANE Select	NP_003097.1:n.*242G>C