Canonical Allele Identifier: CA346131264
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs1405714912
gnomAD v2: 2-26684573-C-T
gnomAD v4: 2-26461705-C-T
MyVariant Identifiers: chr2:g.26684573C>T (hg19) chr2:g.26461705C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26461705C>T , CM000664.2:g.26461705C>T GRCh38
NC_000002.11:g.26684573C>T , CM000664.1:g.26684573C>T GRCh37
NC_000002.10:g.26538077C>T NCBI36
NG_009937.1:g.101994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.5524G>A MANE Select ENSP00000272371.2:p.Asp1842Asn
ENST00000339598.8:c.3223G>A MANE Plus Clinical ENSP00000344521.3:p.Asp1075Asn
ENST00000402415.8:c.3283G>A ENSP00000383906.4:p.Asp1095Asn
ENST00000272371.6:c.5524G>A ENSP00000272371.2:p.Asp1842Asn
ENST00000338581.10:c.3223G>A ENSP00000345137.6:p.Asp1075Asn
ENST00000339598.7:c.3223G>A ENSP00000344521.3:p.Asp1075Asn
ENST00000402415.7:c.3454G>A ENSP00000383906.3:p.Asp1152Asn
ENST00000403946.7:c.5524G>A ENSP00000385255.3:p.Asp1842Asn
NM_001287489.1:c.5524G>A NP_001274418.1:p.Asp1842Asn
NM_004802.3:c.3223G>A NP_004793.2:p.Asp1075Asn
NM_194248.2:c.5524G>A NP_919224.1:p.Asp1842Asn
NM_194322.2:c.3454G>A NP_919303.1:p.Asp1152Asn
NM_194323.2:c.3223G>A NP_919304.1:p.Asp1075Asn
XM_005264644.2:c.5509G>A XP_005264701.1:p.Asp1837Asn
XM_011533185.1:c.5569G>A XP_011531487.1:p.Asp1857Asn
XM_017005338.1:c.5464G>A XP_016860827.1:p.Asp1822Asn
NM_001287489.2:c.5524G>A NP_001274418.1:p.Asp1842Asn
NM_004802.4:c.3223G>A NP_004793.2:p.Asp1075Asn
NM_194248.3:c.5524G>A MANE Select NP_919224.1:p.Asp1842Asn
NM_194322.3:c.3454G>A NP_919303.1:p.Asp1152Asn
NM_194323.3:c.3223G>A MANE Plus Clinical NP_919304.1:p.Asp1075Asn
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