Canonical Allele Identifier: CA425359314

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2762412
• ClinVar RCV Id: RCV003570059
• MyVariant Identifiers: chr2:g.26684628C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461760C>T , CM000664.2:g.26461760C>T	GRCh38
NC_000002.11:g.26684628C>T , CM000664.1:g.26684628C>T	GRCh37
NC_000002.10:g.26538132C>T	NCBI36
NG_009937.1:g.101939G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5469G>A MANE Select	ENSP00000272371.2:p.Lys1823=
ENST00000339598.8:c.3168G>A MANE Plus Clinical	ENSP00000344521.3:p.Lys1056=
ENST00000402415.8:c.3228G>A	ENSP00000383906.4:p.Lys1076=
ENST00000272371.6:c.5469G>A	ENSP00000272371.2:p.Lys1823=
ENST00000338581.10:c.3168G>A	ENSP00000345137.6:p.Lys1056=
ENST00000339598.7:c.3168G>A	ENSP00000344521.3:p.Lys1056=
ENST00000402415.7:c.3399G>A	ENSP00000383906.3:p.Lys1133=
ENST00000403946.7:c.5469G>A	ENSP00000385255.3:p.Lys1823=
NM_001287489.1:c.5469G>A	NP_001274418.1:p.Lys1823=
NM_004802.3:c.3168G>A	NP_004793.2:p.Lys1056=
NM_194248.2:c.5469G>A	NP_919224.1:p.Lys1823=
NM_194322.2:c.3399G>A	NP_919303.1:p.Lys1133=
NM_194323.2:c.3168G>A	NP_919304.1:p.Lys1056=
XM_005264644.2:c.5454G>A	XP_005264701.1:p.Lys1818=
XM_011533185.1:c.5514G>A	XP_011531487.1:p.Lys1838=
XM_017005338.1:c.5409G>A	XP_016860827.1:p.Lys1803=
NM_001287489.2:c.5469G>A	NP_001274418.1:p.Lys1823=
NM_004802.4:c.3168G>A	NP_004793.2:p.Lys1056=
NM_194248.3:c.5469G>A MANE Select	NP_919224.1:p.Lys1823=
NM_194322.3:c.3399G>A	NP_919303.1:p.Lys1133=
NM_194323.3:c.3168G>A MANE Plus Clinical	NP_919304.1:p.Lys1056=