Canonical Allele Identifier: CA1562832
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 897955
ClinVar RCV Id: RCV001141524 RCV001195508 RCV002240656 RCV003413950
dbSNP Id: rs144562626
ExAC: 2:26684692 G / A
gnomAD v2: 2-26684692-G-A
gnomAD v3: 2-26461824-G-A
gnomAD v4: 2-26461824-G-A
MyVariant Identifiers: chr2:g.26684692G>A (hg19) chr2:g.26461824G>A (hg38)
ERepo: CA1562832/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26461824G>A , CM000664.2:g.26461824G>A GRCh38
NC_000002.11:g.26684692G>A , CM000664.1:g.26684692G>A GRCh37
NC_000002.10:g.26538196G>A NCBI36
NG_009937.1:g.101875C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5405C>T MANE Select ENSP00000272371.2:p.Ala1802Val
ENST00000339598.8:c.3104C>T MANE Plus Clinical ENSP00000344521.3:p.Ala1035Val
ENST00000402415.8:c.3164C>T ENSP00000383906.4:p.Ala1055Val
ENST00000272371.6:c.5405C>T ENSP00000272371.2:p.Ala1802Val
ENST00000338581.10:c.3104C>T ENSP00000345137.6:p.Ala1035Val
ENST00000339598.7:c.3104C>T ENSP00000344521.3:p.Ala1035Val
ENST00000402415.7:c.3335C>T ENSP00000383906.3:p.Ala1112Val
ENST00000403946.7:c.5405C>T ENSP00000385255.3:p.Ala1802Val
NM_001287489.1:c.5405C>T NP_001274418.1:p.Ala1802Val
NM_004802.3:c.3104C>T NP_004793.2:p.Ala1035Val
NM_194248.2:c.5405C>T NP_919224.1:p.Ala1802Val
NM_194322.2:c.3335C>T NP_919303.1:p.Ala1112Val
NM_194323.2:c.3104C>T NP_919304.1:p.Ala1035Val
XM_005264644.2:c.5390C>T XP_005264701.1:p.Ala1797Val
XM_011533185.1:c.5450C>T XP_011531487.1:p.Ala1817Val
XM_017005338.1:c.5345C>T XP_016860827.1:p.Ala1782Val
NM_001287489.2:c.5405C>T NP_001274418.1:p.Ala1802Val
NM_004802.4:c.3104C>T NP_004793.2:p.Ala1035Val
NM_194248.3:c.5405C>T MANE Select NP_919224.1:p.Ala1802Val
NM_194322.3:c.3335C>T NP_919303.1:p.Ala1112Val
NM_194323.3:c.3104C>T MANE Plus Clinical NP_919304.1:p.Ala1035Val
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