Canonical Allele Identifier: CA2704832399
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

dbSNP Id: rs2108521204

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181712340_181712343del , CM000665.2:g.181712340_181712343del GRCh38
NC_000003.11:g.181430128_181430131del , CM000665.1:g.181430128_181430131del GRCh37
NC_000003.10:g.182912822_182912825del NCBI36
NG_009080.1:g.5407_5410del , LRG_719:g.5407_5410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.-21_-18del (SOX2) MANE Select ENSP00000323588.1:n.-21_-18del
ENST00000325404.2:c.-21_-18del (SOX2) ENSP00000323588.1:n.-21_-18del
NM_003106.3:c.-21_-18del (SOX2) NP_003097.1:n.-21_-18del
NR_004053.3:n.768-2845_768-2842del (SOX2-OT)
NR_075089.1:n.767+12457_767+12460del (SOX2-OT)
NR_075090.1:n.482-27229_482-27226del (SOX2-OT)
NR_075091.1:n.783-2845_783-2842del (SOX2-OT)
NR_075092.1:n.782+12457_782+12460del (SOX2-OT)
NR_075093.1:n.473-27229_473-27226del (SOX2-OT)
NM_003106.4:c.-21_-18del (SOX2) MANE Select NP_003097.1:n.-21_-18del