Canonical Allele Identifier: CA346123945

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26700584T>G (hg19) ; chr2:g.26477716T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477716T>G , CM000664.2:g.26477716T>G	GRCh38
NC_000002.11:g.26700584T>G , CM000664.1:g.26700584T>G	GRCh37
NC_000002.10:g.26554088T>G	NCBI36
NG_009937.1:g.85983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2248A>C MANE Select	ENSP00000272371.2:p.Lys750Gln
ENST00000339598.8:c.7A>C MANE Plus Clinical	ENSP00000344521.3:p.Lys3Gln
ENST00000402415.8:c.7A>C	ENSP00000383906.4:p.Lys3Gln
ENST00000272371.6:c.2248A>C	ENSP00000272371.2:p.Lys750Gln
ENST00000338581.10:c.7A>C	ENSP00000345137.6:p.Lys3Gln
ENST00000339598.7:c.7A>C	ENSP00000344521.3:p.Lys3Gln
ENST00000402415.7:c.178A>C	ENSP00000383906.3:p.Lys60Gln
ENST00000403946.7:c.2248A>C	ENSP00000385255.3:p.Lys750Gln
NM_001287489.1:c.2248A>C	NP_001274418.1:p.Lys750Gln
NM_004802.3:c.7A>C	NP_004793.2:p.Lys3Gln
NM_194248.2:c.2248A>C	NP_919224.1:p.Lys750Gln
NM_194322.2:c.178A>C	NP_919303.1:p.Lys60Gln
NM_194323.2:c.7A>C	NP_919304.1:p.Lys3Gln
XM_005264644.2:c.2293A>C	XP_005264701.1:p.Lys765Gln
XM_011533185.1:c.2293A>C	XP_011531487.1:p.Lys765Gln
XM_017005338.1:c.2248A>C	XP_016860827.1:p.Lys750Gln
NM_001287489.2:c.2248A>C	NP_001274418.1:p.Lys750Gln
NM_004802.4:c.7A>C	NP_004793.2:p.Lys3Gln
NM_194248.3:c.2248A>C MANE Select	NP_919224.1:p.Lys750Gln
NM_194322.3:c.178A>C	NP_919303.1:p.Lys60Gln
NM_194323.3:c.7A>C MANE Plus Clinical	NP_919304.1:p.Lys3Gln