Canonical Allele Identifier: CA425207449
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26467446-C-T
MyVariant Identifiers: chr2:g.26690314C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26467446C>T , CM000664.2:g.26467446C>T GRCh38
NC_000002.11:g.26690314C>T , CM000664.1:g.26690314C>T GRCh37
NC_000002.10:g.26543818C>T NCBI36
NG_009937.1:g.96253G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.4146G>A MANE Select ENSP00000272371.2:p.Lys1382=
ENST00000339598.8:c.1845G>A MANE Plus Clinical ENSP00000344521.3:p.Lys615=
ENST00000402415.8:c.1905G>A ENSP00000383906.4:p.Lys635=
ENST00000272371.6:c.4146G>A ENSP00000272371.2:p.Lys1382=
ENST00000338581.10:c.1845G>A ENSP00000345137.6:p.Lys615=
ENST00000339598.7:c.1845G>A ENSP00000344521.3:p.Lys615=
ENST00000402415.7:c.2076G>A ENSP00000383906.3:p.Lys692=
ENST00000403946.7:c.4146G>A ENSP00000385255.3:p.Lys1382=
NM_001287489.1:c.4146G>A NP_001274418.1:p.Lys1382=
NM_004802.3:c.1845G>A NP_004793.2:p.Lys615=
NM_194248.2:c.4146G>A NP_919224.1:p.Lys1382=
NM_194322.2:c.2076G>A NP_919303.1:p.Lys692=
NM_194323.2:c.1845G>A NP_919304.1:p.Lys615=
XM_005264644.2:c.4131G>A XP_005264701.1:p.Lys1377=
XM_011533185.1:c.4191G>A XP_011531487.1:p.Lys1397=
XM_017005338.1:c.4086G>A XP_016860827.1:p.Lys1362=
NM_001287489.2:c.4146G>A NP_001274418.1:p.Lys1382=
NM_004802.4:c.1845G>A NP_004793.2:p.Lys615=
NM_194248.3:c.4146G>A MANE Select NP_919224.1:p.Lys1382=
NM_194322.3:c.2076G>A NP_919303.1:p.Lys692=
NM_194323.3:c.1845G>A MANE Plus Clinical NP_919304.1:p.Lys615=