Canonical Allele Identifier: CA425359890
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26477219-T-G
MyVariant Identifiers: chr2:g.26700087T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477219T>G , CM000664.2:g.26477219T>G GRCh38
NC_000002.11:g.26700087T>G , CM000664.1:g.26700087T>G GRCh37
NC_000002.10:g.26553591T>G NCBI36
NG_009937.1:g.86480A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2476A>C MANE Select ENSP00000272371.2:p.Arg826=
ENST00000339598.8:c.235A>C MANE Plus Clinical ENSP00000344521.3:p.Arg79=
ENST00000402415.8:c.235A>C ENSP00000383906.4:p.Arg79=
ENST00000272371.6:c.2476A>C ENSP00000272371.2:p.Arg826=
ENST00000338581.10:c.235A>C ENSP00000345137.6:p.Arg79=
ENST00000339598.7:c.235A>C ENSP00000344521.3:p.Arg79=
ENST00000402415.7:c.406A>C ENSP00000383906.3:p.Arg136=
ENST00000403946.7:c.2476A>C ENSP00000385255.3:p.Arg826=
NM_001287489.1:c.2476A>C NP_001274418.1:p.Arg826=
NM_004802.3:c.235A>C NP_004793.2:p.Arg79=
NM_194248.2:c.2476A>C NP_919224.1:p.Arg826=
NM_194322.2:c.406A>C NP_919303.1:p.Arg136=
NM_194323.2:c.235A>C NP_919304.1:p.Arg79=
XM_005264644.2:c.2521A>C XP_005264701.1:p.Arg841=
XM_011533185.1:c.2521A>C XP_011531487.1:p.Arg841=
XM_017005338.1:c.2476A>C XP_016860827.1:p.Arg826=
NM_001287489.2:c.2476A>C NP_001274418.1:p.Arg826=
NM_004802.4:c.235A>C NP_004793.2:p.Arg79=
NM_194248.3:c.2476A>C MANE Select NP_919224.1:p.Arg826=
NM_194322.3:c.406A>C NP_919303.1:p.Arg136=
NM_194323.3:c.235A>C MANE Plus Clinical NP_919304.1:p.Arg79=