Canonical Allele Identifier: CA425206553

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2698575
• ClinVar RCV Id: RCV003551828
• MyVariant Identifiers: chr2:g.26682980C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460112C>T , CM000664.2:g.26460112C>T	GRCh38
NC_000002.11:g.26682980C>T , CM000664.1:g.26682980C>T	GRCh37
NC_000002.10:g.26536484C>T	NCBI36
NG_009937.1:g.103587G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5907G>A MANE Select	ENSP00000272371.2:p.Leu1969=
ENST00000339598.8:c.3512+535G>A MANE Plus Clinical	ENSP00000344521.3:n.3512+535G>A
ENST00000402415.8:c.3666G>A	ENSP00000383906.4:p.Leu1222=
ENST00000272371.6:c.5907G>A	ENSP00000272371.2:p.Leu1969=
ENST00000338581.10:c.3606G>A	ENSP00000345137.6:p.Leu1202=
ENST00000339598.7:c.3512+535G>A	ENSP00000344521.3:n.3512+535G>A
ENST00000402415.7:c.3837G>A	ENSP00000383906.3:p.Leu1279=
ENST00000403946.7:c.5813+535G>A	ENSP00000385255.3:n.5813+535G>A
NM_001287489.1:c.5813+535G>A	NP_001274418.1:n.5813+535G>A
NM_004802.3:c.3606G>A	NP_004793.2:p.Leu1202=
NM_194248.2:c.5907G>A	NP_919224.1:p.Leu1969=
NM_194322.2:c.3837G>A	NP_919303.1:p.Leu1279=
NM_194323.2:c.3512+535G>A	NP_919304.1:n.3512+535G>A
XM_005264644.2:c.5798+535G>A	XP_005264701.1:n.5798+535G>A
XM_011533185.1:c.5858+535G>A	XP_011531487.1:n.5858+535G>A
XM_017005338.1:c.5847G>A	XP_016860827.1:p.Leu1949=
NM_001287489.2:c.5813+535G>A	NP_001274418.1:n.5813+535G>A
NM_004802.4:c.3606G>A	NP_004793.2:p.Leu1202=
NM_194248.3:c.5907G>A MANE Select	NP_919224.1:p.Leu1969=
NM_194322.3:c.3837G>A	NP_919303.1:p.Leu1279=
NM_194323.3:c.3512+535G>A MANE Plus Clinical	NP_919304.1:n.3512+535G>A