Canonical Allele Identifier: CA1564055
Gene: OTOF HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.26479356G>T
GRCh37 chr2:g.26702224G>T
gnomAD v2:
2:26702224 G / T
gnomAD v3:
2:26479356 G / T
gnomAD v4:
chr2-26479356-G-T
Joint Max Group AF 0.00006224 (AFR)
Genomes Max Group AF 0.00004727 (AFR)
Exomes Max Group AF 0.00003983 (AFR)
ClinVar RCV:
RCV003839323
ClinVar Variation:
2978677
dbSNP:
80356590
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26479356G>T , CM000664.2:g.26479356G>T GRCh38
NC_000002.11:g.26702224G>T , CM000664.1:g.26702224G>T GRCh37
NC_000002.10:g.26555728G>T NCBI36
NG_009937.1:g.84343C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2122C>A MANE Select ENSP00000272371.2:p.Arg708=
ENST00000272371.6:c.2122C>A ENSP00000272371.2:p.Arg708=
ENST00000403946.7:c.2122C>A ENSP00000385255.3:p.Arg708=
NM_001287489.1:c.2122C>A NP_001274418.1:p.Arg708=
NM_194248.2:c.2122C>A NP_919224.1:p.Arg708=
XM_005264644.2:c.2167C>A XP_005264701.1:p.Arg723=
XM_011533185.1:c.2167C>A XP_011531487.1:p.Arg723=
XM_017005338.1:c.2122C>A XP_016860827.1:p.Arg708=
NM_001287489.2:c.2122C>A NP_001274418.1:p.Arg708=
NM_194248.3:c.2122C>A MANE Select NP_919224.1:p.Arg708=
Search 100 bp 5'
Search 100 bp 3'