Canonical Allele Identifier: CA44398733

Gene: OTOF

Linked Data

• dbSNP Id: rs867025719
• gnomAD v4: 2-26477749-C-T
• MyVariant Identifiers: chr2:g.26700617C>T (hg19) ; chr2:g.26477749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477749C>T , CM000664.2:g.26477749C>T	GRCh38
NC_000002.11:g.26700617C>T , CM000664.1:g.26700617C>T	GRCh37
NC_000002.10:g.26554121C>T	NCBI36
NG_009937.1:g.85950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2215G>A MANE Select	ENSP00000272371.2:p.Glu739Lys
ENST00000339598.8:c.-27G>A MANE Plus Clinical	ENSP00000344521.3:n.-27G>A
ENST00000402415.8:c.-27G>A	ENSP00000383906.4:n.-27G>A
ENST00000272371.6:c.2215G>A	ENSP00000272371.2:p.Glu739Lys
ENST00000338581.10:c.-27G>A	ENSP00000345137.6:n.-27G>A
ENST00000339598.7:c.-27G>A	ENSP00000344521.3:n.-27G>A
ENST00000402415.7:c.145G>A	ENSP00000383906.3:p.Glu49Lys
ENST00000403946.7:c.2215G>A	ENSP00000385255.3:p.Glu739Lys
NM_001287489.1:c.2215G>A	NP_001274418.1:p.Glu739Lys
NM_004802.3:c.-27G>A	NP_004793.2:n.-27G>A
NM_194248.2:c.2215G>A	NP_919224.1:p.Glu739Lys
NM_194322.2:c.145G>A	NP_919303.1:p.Glu49Lys
NM_194323.2:c.-27G>A	NP_919304.1:n.-27G>A
XM_005264644.2:c.2260G>A	XP_005264701.1:p.Glu754Lys
XM_011533185.1:c.2260G>A	XP_011531487.1:p.Glu754Lys
XM_017005338.1:c.2215G>A	XP_016860827.1:p.Glu739Lys
NM_001287489.2:c.2215G>A	NP_001274418.1:p.Glu739Lys
NM_004802.4:c.-27G>A	NP_004793.2:n.-27G>A
NM_194248.3:c.2215G>A MANE Select	NP_919224.1:p.Glu739Lys
NM_194322.3:c.145G>A	NP_919303.1:p.Glu49Lys
NM_194323.3:c.-27G>A MANE Plus Clinical	NP_919304.1:n.-27G>A