Canonical Allele Identifier: CA425360001
Gene: OTOF HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.26698857G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26475989G>T , CM000664.2:g.26475989G>T GRCh38
NC_000002.11:g.26698857G>T , CM000664.1:g.26698857G>T GRCh37
NC_000002.10:g.26552361G>T NCBI36
NG_009937.1:g.87710C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2916C>A MANE Select ENSP00000272371.2:p.Leu972=
ENST00000339598.8:c.675C>A MANE Plus Clinical ENSP00000344521.3:p.Leu225=
ENST00000402415.8:c.675C>A ENSP00000383906.4:p.Leu225=
ENST00000272371.6:c.2916C>A ENSP00000272371.2:p.Leu972=
ENST00000338581.10:c.675C>A ENSP00000345137.6:p.Leu225=
ENST00000339598.7:c.675C>A ENSP00000344521.3:p.Leu225=
ENST00000402415.7:c.846C>A ENSP00000383906.3:p.Leu282=
ENST00000403946.7:c.2916C>A ENSP00000385255.3:p.Leu972=
NM_001287489.1:c.2916C>A NP_001274418.1:p.Leu972=
NM_004802.3:c.675C>A NP_004793.2:p.Leu225=
NM_194248.2:c.2916C>A NP_919224.1:p.Leu972=
NM_194322.2:c.846C>A NP_919303.1:p.Leu282=
NM_194323.2:c.675C>A NP_919304.1:p.Leu225=
XM_005264644.2:c.2961C>A XP_005264701.1:p.Leu987=
XM_011533185.1:c.2961C>A XP_011531487.1:p.Leu987=
XM_017005338.1:c.2916C>A XP_016860827.1:p.Leu972=
NM_001287489.2:c.2916C>A NP_001274418.1:p.Leu972=
NM_004802.4:c.675C>A NP_004793.2:p.Leu225=
NM_194248.3:c.2916C>A MANE Select NP_919224.1:p.Leu972=
NM_194322.3:c.846C>A NP_919303.1:p.Leu282=
NM_194323.3:c.675C>A MANE Plus Clinical NP_919304.1:p.Leu225=