Canonical Allele Identifier: CA1564221
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 2045378
ClinVar RCV Id: RCV002918136
dbSNP Id: rs369178398
ExAC: 2:26703887 T / C
gnomAD v2: 2-26703887-T-C
gnomAD v3: 2-26481019-T-C
gnomAD v4: 2-26481019-T-C
MyVariant Identifiers: chr2:g.26703887T>C (hg19) chr2:g.26481019T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26481019T>C , CM000664.2:g.26481019T>C GRCh38
NC_000002.11:g.26703887T>C , CM000664.1:g.26703887T>C GRCh37
NC_000002.10:g.26557391T>C NCBI36
NG_009937.1:g.82680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1580-10A>G MANE Select ENSP00000272371.2:n.1580-10A>G
ENST00000272371.6:c.1580-10A>G ENSP00000272371.2:n.1580-10A>G
ENST00000403946.7:c.1580-10A>G ENSP00000385255.3:n.1580-10A>G
NM_001287489.1:c.1580-10A>G NP_001274418.1:n.1580-10A>G
NM_194248.2:c.1580-10A>G NP_919224.1:n.1580-10A>G
XM_005264644.2:c.1625-10A>G XP_005264701.1:n.1625-10A>G
XM_011533185.1:c.1625-10A>G XP_011531487.1:n.1625-10A>G
XM_017005338.1:c.1580-10A>G XP_016860827.1:n.1580-10A>G
NM_001287489.2:c.1580-10A>G NP_001274418.1:n.1580-10A>G
NM_194248.3:c.1580-10A>G MANE Select NP_919224.1:n.1580-10A>G
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