Canonical Allele Identifier: CA262042
Gene: OTOF HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.26479325C>T
GRCh37 chr2:g.26702193C>T
gnomAD v2:
2:26702193 C / T
gnomAD v3:
2:26479325 C / T
gnomAD v4:
chr2-26479325-C-T
Joint Max Group AF 0.00028804 (AFR)
Genomes Max Group AF 0.00026061 (AFR)
Exomes Max Group AF 0.00022953 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26479325C>T , CM000664.2:g.26479325C>T GRCh38
NC_000002.11:g.26702193C>T , CM000664.1:g.26702193C>T GRCh37
NC_000002.10:g.26555697C>T NCBI36
NG_009937.1:g.84374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2153G>A MANE Select ENSP00000272371.2:p.Trp718Ter
ENST00000272371.6:c.2153G>A ENSP00000272371.2:p.Trp718Ter
ENST00000403946.7:c.2153G>A ENSP00000385255.3:p.Trp718Ter
NM_001287489.1:c.2153G>A NP_001274418.1:p.Trp718Ter
NM_194248.2:c.2153G>A NP_919224.1:p.Trp718Ter
XM_005264644.2:c.2198G>A XP_005264701.1:p.Trp733Ter
XM_011533185.1:c.2198G>A XP_011531487.1:p.Trp733Ter
XM_017005338.1:c.2153G>A XP_016860827.1:p.Trp718Ter
NM_001287489.2:c.2153G>A NP_001274418.1:p.Trp718Ter
NM_194248.3:c.2153G>A MANE Select NP_919224.1:p.Trp718Ter
Search 100 bp 5'
Search 100 bp 3'