Canonical Allele Identifier: CA1424780787

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1714904125

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713670_181713678del , CM000665.2:g.181713670_181713678del	GRCh38
NC_000003.11:g.181431458_181431466del , CM000665.1:g.181431458_181431466del	GRCh37
NC_000003.10:g.182914152_182914160del	NCBI36
NG_009080.1:g.6737_6745del , LRG_719:g.6737_6745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*356_*364del (SOX2) MANE Select	ENSP00000323588.1:n.*356_*364del
ENST00000325404.2:c.*356_*364del (SOX2)	ENSP00000323588.1:n.*356_*364del
NM_003106.3:c.*356_*364del (SOX2)	NP_003097.1:n.*356_*364del
NR_004053.3:n.768-1515_768-1507del (SOX2-OT)
NR_075089.1:n.767+13787_767+13795del (SOX2-OT)
NR_075090.1:n.482-25899_482-25891del (SOX2-OT)
NR_075091.1:n.783-1515_783-1507del (SOX2-OT)
NR_075092.1:n.782+13787_782+13795del (SOX2-OT)
NR_075093.1:n.473-25899_473-25891del (SOX2-OT)
NM_003106.4:c.*356_*364del (SOX2) MANE Select	NP_003097.1:n.*356_*364del