Canonical Allele Identifier: CA273636
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 179539
ClinVar RCV Id: RCV000156331
dbSNP Id: rs727504936
gnomAD v2: 2-26699044-G-A
gnomAD v4: 2-26476176-G-A
MyVariant Identifiers: chr2:g.26699044G>A (hg19) chr2:g.26476176G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26476176G>A , CM000664.2:g.26476176G>A GRCh38
NC_000002.11:g.26699044G>A , CM000664.1:g.26699044G>A GRCh37
NC_000002.10:g.26552548G>A NCBI36
NG_009937.1:g.87523C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2818C>T MANE Select ENSP00000272371.2:p.Gln940Ter
ENST00000339598.8:c.577C>T MANE Plus Clinical ENSP00000344521.3:p.Gln193Ter
ENST00000402415.8:c.577C>T ENSP00000383906.4:p.Gln193Ter
ENST00000272371.6:c.2818C>T ENSP00000272371.2:p.Gln940Ter
ENST00000338581.10:c.577C>T ENSP00000345137.6:p.Gln193Ter
ENST00000339598.7:c.577C>T ENSP00000344521.3:p.Gln193Ter
ENST00000402415.7:c.748C>T ENSP00000383906.3:p.Gln250Ter
ENST00000403946.7:c.2818C>T ENSP00000385255.3:p.Gln940Ter
NM_001287489.1:c.2818C>T NP_001274418.1:p.Gln940Ter
NM_004802.3:c.577C>T NP_004793.2:p.Gln193Ter
NM_194248.2:c.2818C>T NP_919224.1:p.Gln940Ter
NM_194322.2:c.748C>T NP_919303.1:p.Gln250Ter
NM_194323.2:c.577C>T NP_919304.1:p.Gln193Ter
XM_005264644.2:c.2863C>T XP_005264701.1:p.Gln955Ter
XM_011533185.1:c.2863C>T XP_011531487.1:p.Gln955Ter
XM_017005338.1:c.2818C>T XP_016860827.1:p.Gln940Ter
NM_001287489.2:c.2818C>T NP_001274418.1:p.Gln940Ter
NM_004802.4:c.577C>T NP_004793.2:p.Gln193Ter
NM_194248.3:c.2818C>T MANE Select NP_919224.1:p.Gln940Ter
NM_194322.3:c.748C>T NP_919303.1:p.Gln250Ter
NM_194323.3:c.577C>T MANE Plus Clinical NP_919304.1:p.Gln193Ter
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