Canonical Allele Identifier: CA531395514
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs1258773667
gnomAD v2: 2-26703050-C-G
gnomAD v4: 2-26480182-C-G
MyVariant Identifiers: chr2:g.26703050C>G (hg19) chr2:g.26480182C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480182C>G , CM000664.2:g.26480182C>G GRCh38
NC_000002.11:g.26703050C>G , CM000664.1:g.26703050C>G GRCh37
NC_000002.10:g.26556554C>G NCBI36
NG_009937.1:g.83517G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.1912+21G>C MANE Select ENSP00000272371.2:n.1912+21G>C
ENST00000272371.6:c.1912+21G>C ENSP00000272371.2:n.1912+21G>C
ENST00000403946.7:c.1912+21G>C ENSP00000385255.3:n.1912+21G>C
NM_001287489.1:c.1912+21G>C NP_001274418.1:n.1912+21G>C
NM_194248.2:c.1912+21G>C NP_919224.1:n.1912+21G>C
XM_005264644.2:c.1957+21G>C XP_005264701.1:n.1957+21G>C
XM_011533185.1:c.1957+21G>C XP_011531487.1:n.1957+21G>C
XM_017005338.1:c.1912+21G>C XP_016860827.1:n.1912+21G>C
NM_001287489.2:c.1912+21G>C NP_001274418.1:n.1912+21G>C
NM_194248.3:c.1912+21G>C MANE Select NP_919224.1:n.1912+21G>C
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