Canonical Allele Identifier: CA1563284
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 667141
ClinVar RCV Id: RCV000825800 RCV000921292 RCV002235592 RCV002536063 RCV003955538
dbSNP Id: rs138037294
ExAC: 2:26690369 C / A
gnomAD v2: 2-26690369-C-A
gnomAD v3: 2-26467501-C-A
gnomAD v4: 2-26467501-C-A
MyVariant Identifiers: chr2:g.26690369C>A (hg19) chr2:g.26467501C>A (hg38)
ERepo: CA1563284/MONDO:0019497/005
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26467501C>A , CM000664.2:g.26467501C>A GRCh38
NC_000002.11:g.26690369C>A , CM000664.1:g.26690369C>A GRCh37
NC_000002.10:g.26543873C>A NCBI36
NG_009937.1:g.96198G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.4091G>T MANE Select ENSP00000272371.2:p.Gly1364Val
ENST00000339598.8:c.1790G>T MANE Plus Clinical ENSP00000344521.3:p.Gly597Val
ENST00000402415.8:c.1850G>T ENSP00000383906.4:p.Gly617Val
ENST00000272371.6:c.4091G>T ENSP00000272371.2:p.Gly1364Val
ENST00000338581.10:c.1790G>T ENSP00000345137.6:p.Gly597Val
ENST00000339598.7:c.1790G>T ENSP00000344521.3:p.Gly597Val
ENST00000402415.7:c.2021G>T ENSP00000383906.3:p.Gly674Val
ENST00000403946.7:c.4091G>T ENSP00000385255.3:p.Gly1364Val
NM_001287489.1:c.4091G>T NP_001274418.1:p.Gly1364Val
NM_004802.3:c.1790G>T NP_004793.2:p.Gly597Val
NM_194248.2:c.4091G>T NP_919224.1:p.Gly1364Val
NM_194322.2:c.2021G>T NP_919303.1:p.Gly674Val
NM_194323.2:c.1790G>T NP_919304.1:p.Gly597Val
XM_005264644.2:c.4076G>T XP_005264701.1:p.Gly1359Val
XM_011533185.1:c.4136G>T XP_011531487.1:p.Gly1379Val
XM_017005338.1:c.4031G>T XP_016860827.1:p.Gly1344Val
NM_001287489.2:c.4091G>T NP_001274418.1:p.Gly1364Val
NM_004802.4:c.1790G>T NP_004793.2:p.Gly597Val
NM_194248.3:c.4091G>T MANE Select NP_919224.1:p.Gly1364Val
NM_194322.3:c.2021G>T NP_919303.1:p.Gly674Val
NM_194323.3:c.1790G>T MANE Plus Clinical NP_919304.1:p.Gly597Val
Search 100 bp 5'
Search 100 bp 3'