Canonical Allele Identifier: CA1564267
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 2035621
ClinVar RCV Id: RCV002890161
dbSNP Id: rs757298503
ExAC: 2:26705416 A / G
gnomAD v2: 2-26705416-A-G
gnomAD v4: 2-26482548-A-G
MyVariant Identifiers: chr2:g.26705416A>G (hg19) chr2:g.26482548A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482548A>G , CM000664.2:g.26482548A>G GRCh38
NC_000002.11:g.26705416A>G , CM000664.1:g.26705416A>G GRCh37
NC_000002.10:g.26558920A>G NCBI36
NG_009937.1:g.81151T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1437T>C MANE Select ENSP00000272371.2:p.Asn479=
ENST00000272371.6:c.1437T>C ENSP00000272371.2:p.Asn479=
ENST00000403946.7:c.1437T>C ENSP00000385255.3:p.Asn479=
NM_001287489.1:c.1437T>C NP_001274418.1:p.Asn479=
NM_194248.2:c.1437T>C NP_919224.1:p.Asn479=
XM_005264644.2:c.1482T>C XP_005264701.1:p.Asn494=
XM_011533185.1:c.1482T>C XP_011531487.1:p.Asn494=
XM_017005338.1:c.1437T>C XP_016860827.1:p.Asn479=
NM_001287489.2:c.1437T>C NP_001274418.1:p.Asn479=
NM_194248.3:c.1437T>C MANE Select NP_919224.1:p.Asn479=
Search 100 bp 5'
Search 100 bp 3'