Canonical Allele Identifier: CA44401707
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs544903022
gnomAD v2: 2-26705512-T-C
gnomAD v4: 2-26482644-T-C
MyVariant Identifiers: chr2:g.26705512T>C (hg19) chr2:g.26705512_26705536delinsCGCATGTGTGTGTGTGTGAGTGGGC (hg19) chr2:g.26482644T>C (hg38) chr2:g.26482644_26482668delinsCGCATGTGTGTGTGTGTGAGTGGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482644T>C , CM000664.2:g.26482644T>C GRCh38
NC_000002.11:g.26705512T>C , CM000664.1:g.26705512T>C GRCh37
NC_000002.10:g.26559016T>C NCBI36
NG_009937.1:g.81055A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1393-52A>G MANE Select ENSP00000272371.2:n.1393-52A>G
ENST00000272371.6:c.1393-52A>G ENSP00000272371.2:n.1393-52A>G
ENST00000403946.7:c.1393-52A>G ENSP00000385255.3:n.1393-52A>G
NM_001287489.1:c.1393-52A>G NP_001274418.1:n.1393-52A>G
NM_194248.2:c.1393-52A>G NP_919224.1:n.1393-52A>G
XM_005264644.2:c.1438-52A>G XP_005264701.1:n.1438-52A>G
XM_011533185.1:c.1438-52A>G XP_011531487.1:n.1438-52A>G
XM_017005338.1:c.1393-52A>G XP_016860827.1:n.1393-52A>G
NM_001287489.2:c.1393-52A>G NP_001274418.1:n.1393-52A>G
NM_194248.3:c.1393-52A>G MANE Select NP_919224.1:n.1393-52A>G
Search 100 bp 5'
Search 100 bp 3'