Canonical Allele Identifier: CA344698
Gene: OTOF HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.26465753A>G
GRCh37 chr2:g.26688621A>G
Revel Score:
ENST00000338581 0.917
ENST00000339598 (MANE Plus Clinical) 0.917
ENST00000402415 0.917
ENST00000272371 (MANE Select) 0.917
ENST00000403946 0.917
gnomAD v2:
2:26688621 A / G
gnomAD v3:
2:26465753 A / G
gnomAD v4:
chr2-26465753-A-G
Joint Max Group AF 0.00002665 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002711 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26465753A>G , CM000664.2:g.26465753A>G GRCh38
NC_000002.11:g.26688621A>G , CM000664.1:g.26688621A>G GRCh37
NC_000002.10:g.26542125A>G NCBI36
NG_009937.1:g.97946T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.4718T>C MANE Select ENSP00000272371.2:p.Ile1573Thr
ENST00000339598.8:c.2417T>C MANE Plus Clinical ENSP00000344521.3:p.Ile806Thr
ENST00000402415.8:c.2477T>C ENSP00000383906.4:p.Ile826Thr
ENST00000272371.6:c.4718T>C ENSP00000272371.2:p.Ile1573Thr
ENST00000338581.10:c.2417T>C ENSP00000345137.6:p.Ile806Thr
ENST00000339598.7:c.2417T>C ENSP00000344521.3:p.Ile806Thr
ENST00000402415.7:c.2648T>C ENSP00000383906.3:p.Ile883Thr
ENST00000403946.7:c.4718T>C ENSP00000385255.3:p.Ile1573Thr
ENST00000464574.1:n.467T>C
NM_001287489.1:c.4718T>C NP_001274418.1:p.Ile1573Thr
NM_004802.3:c.2417T>C NP_004793.2:p.Ile806Thr
NM_194248.2:c.4718T>C NP_919224.1:p.Ile1573Thr
NM_194322.2:c.2648T>C NP_919303.1:p.Ile883Thr
NM_194323.2:c.2417T>C NP_919304.1:p.Ile806Thr
XM_005264644.2:c.4703T>C XP_005264701.1:p.Ile1568Thr
XM_011533185.1:c.4763T>C XP_011531487.1:p.Ile1588Thr
XM_017005338.1:c.4658T>C XP_016860827.1:p.Ile1553Thr
NM_001287489.2:c.4718T>C NP_001274418.1:p.Ile1573Thr
NM_004802.4:c.2417T>C NP_004793.2:p.Ile806Thr
NM_194248.3:c.4718T>C MANE Select NP_919224.1:p.Ile1573Thr
NM_194322.3:c.2648T>C NP_919303.1:p.Ile883Thr
NM_194323.3:c.2417T>C MANE Plus Clinical NP_919304.1:p.Ile806Thr
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