Canonical Allele Identifier: CA142949

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48270
• ClinVar RCV Id: RCV003764709 ; RCV000041584
• dbSNP Id: rs371649088
• ExAC: 2:26683500 C / T
• gnomAD v2: 2-26683500-C-T
• gnomAD v3: 2-26460632-C-T
• gnomAD v4: 2-26460632-C-T
• MyVariant Identifiers: chr2:g.26683500C>T (hg19) ; chr2:g.26460632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460632C>T , CM000664.2:g.26460632C>T	GRCh38
NC_000002.11:g.26683500C>T , CM000664.1:g.26683500C>T	GRCh37
NC_000002.10:g.26537004C>T	NCBI36
NG_009937.1:g.103067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5813+15G>A MANE Select	ENSP00000272371.2:n.5813+15G>A
ENST00000339598.8:c.3512+15G>A MANE Plus Clinical	ENSP00000344521.3:n.3512+15G>A
ENST00000402415.8:c.3572+15G>A	ENSP00000383906.4:n.3572+15G>A
ENST00000272371.6:c.5813+15G>A	ENSP00000272371.2:n.5813+15G>A
ENST00000338581.10:c.3512+15G>A	ENSP00000345137.6:n.3512+15G>A
ENST00000339598.7:c.3512+15G>A	ENSP00000344521.3:n.3512+15G>A
ENST00000402415.7:c.3743+15G>A	ENSP00000383906.3:n.3743+15G>A
ENST00000403946.7:c.5813+15G>A	ENSP00000385255.3:n.5813+15G>A
NM_001287489.1:c.5813+15G>A	NP_001274418.1:n.5813+15G>A
NM_004802.3:c.3512+15G>A	NP_004793.2:n.3512+15G>A
NM_194248.2:c.5813+15G>A	NP_919224.1:n.5813+15G>A
NM_194322.2:c.3743+15G>A	NP_919303.1:n.3743+15G>A
NM_194323.2:c.3512+15G>A	NP_919304.1:n.3512+15G>A
XM_005264644.2:c.5798+15G>A	XP_005264701.1:n.5798+15G>A
XM_011533185.1:c.5858+15G>A	XP_011531487.1:n.5858+15G>A
XM_017005338.1:c.5753+15G>A	XP_016860827.1:n.5753+15G>A
NM_001287489.2:c.5813+15G>A	NP_001274418.1:n.5813+15G>A
NM_004802.4:c.3512+15G>A	NP_004793.2:n.3512+15G>A
NM_194248.3:c.5813+15G>A MANE Select	NP_919224.1:n.5813+15G>A
NM_194322.3:c.3743+15G>A	NP_919303.1:n.3743+15G>A
NM_194323.3:c.3512+15G>A MANE Plus Clinical	NP_919304.1:n.3512+15G>A