Canonical Allele Identifier: CA2668691866
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

gnomAD v4: 3-181713700-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713700A>G , CM000665.2:g.181713700A>G GRCh38
NC_000003.11:g.181431488A>G , CM000665.1:g.181431488A>G GRCh37
NC_000003.10:g.182914182A>G NCBI36
NG_009080.1:g.6767A>G , LRG_719:g.6767A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325404.3:c.*386A>G (SOX2) MANE Select ENSP00000323588.1:n.*386A>G
ENST00000325404.2:c.*386A>G (SOX2) ENSP00000323588.1:n.*386A>G
NM_003106.3:c.*386A>G (SOX2) NP_003097.1:n.*386A>G
NR_004053.3:n.768-1485A>G (SOX2-OT)
NR_075089.1:n.767+13817A>G (SOX2-OT)
NR_075090.1:n.482-25869A>G (SOX2-OT)
NR_075091.1:n.783-1485A>G (SOX2-OT)
NR_075092.1:n.782+13817A>G (SOX2-OT)
NR_075093.1:n.473-25869A>G (SOX2-OT)
NM_003106.4:c.*386A>G (SOX2) MANE Select NP_003097.1:n.*386A>G
Search 100 bp 5'
Search 100 bp 3'