Canonical Allele Identifier: CA248653

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48189
• ClinVar RCV Id: RCV000041485 ; RCV000731859
• dbSNP Id: rs143141993
• ExAC: 2:26700697 A / G
• gnomAD v2: 2-26700697-A-G
• gnomAD v3: 2-26477829-A-G
• gnomAD v4: 2-26477829-A-G
• MyVariant Identifiers: chr2:g.26700697A>G (hg19) ; chr2:g.26477829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477829A>G , CM000664.2:g.26477829A>G	GRCh38
NC_000002.11:g.26700697A>G , CM000664.1:g.26700697A>G	GRCh37
NC_000002.10:g.26554201A>G	NCBI36
NG_009937.1:g.85870T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2215-80T>C MANE Select	ENSP00000272371.2:n.2215-80T>C
ENST00000339598.8:c.-28+15T>C MANE Plus Clinical	ENSP00000344521.3:n.-28+15T>C
ENST00000402415.8:c.-107T>C	ENSP00000383906.4:n.-107T>C
ENST00000272371.6:c.2215-80T>C	ENSP00000272371.2:n.2215-80T>C
ENST00000338581.10:c.-28+15T>C	ENSP00000345137.6:n.-28+15T>C
ENST00000339598.7:c.-28+15T>C	ENSP00000344521.3:n.-28+15T>C
ENST00000402415.7:c.65T>C	ENSP00000383906.3:p.Leu22Pro
ENST00000403946.7:c.2215-80T>C	ENSP00000385255.3:n.2215-80T>C
NM_001287489.1:c.2215-80T>C	NP_001274418.1:n.2215-80T>C
NM_004802.3:c.-28+15T>C	NP_004793.2:n.-28+15T>C
NM_194248.2:c.2215-80T>C	NP_919224.1:n.2215-80T>C
NM_194322.2:c.65T>C	NP_919303.1:p.Leu22Pro
NM_194323.2:c.-28+15T>C	NP_919304.1:n.-28+15T>C
XM_005264644.2:c.2260-80T>C	XP_005264701.1:n.2260-80T>C
XM_011533185.1:c.2260-80T>C	XP_011531487.1:n.2260-80T>C
XM_017005338.1:c.2215-80T>C	XP_016860827.1:n.2215-80T>C
NM_001287489.2:c.2215-80T>C	NP_001274418.1:n.2215-80T>C
NM_004802.4:c.-28+15T>C	NP_004793.2:n.-28+15T>C
NM_194248.3:c.2215-80T>C MANE Select	NP_919224.1:n.2215-80T>C
NM_194322.3:c.65T>C	NP_919303.1:p.Leu22Pro
NM_194323.3:c.-28+15T>C MANE Plus Clinical	NP_919304.1:n.-28+15T>C