Canonical Allele Identifier: CA44413723

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2979501
• ClinVar RCV Id: RCV003834611
• dbSNP Id: rs748986644
• gnomAD v2: 2-26690038-A-G
• gnomAD v3: 2-26467170-A-G
• gnomAD v4: 2-26467170-A-G
• MyVariant Identifiers: chr2:g.26690038A>G (hg19) ; chr2:g.26467170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467170A>G , CM000664.2:g.26467170A>G	GRCh38
NC_000002.11:g.26690038A>G , CM000664.1:g.26690038A>G	GRCh37
NC_000002.10:g.26543542A>G	NCBI36
NG_009937.1:g.96529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4291T>C MANE Select	ENSP00000272371.2:p.Leu1431=
ENST00000339598.8:c.1990T>C MANE Plus Clinical	ENSP00000344521.3:p.Leu664=
ENST00000402415.8:c.2050T>C	ENSP00000383906.4:p.Leu684=
ENST00000272371.6:c.4291T>C	ENSP00000272371.2:p.Leu1431=
ENST00000338581.10:c.1990T>C	ENSP00000345137.6:p.Leu664=
ENST00000339598.7:c.1990T>C	ENSP00000344521.3:p.Leu664=
ENST00000402415.7:c.2221T>C	ENSP00000383906.3:p.Leu741=
ENST00000403946.7:c.4291T>C	ENSP00000385255.3:p.Leu1431=
NM_001287489.1:c.4291T>C	NP_001274418.1:p.Leu1431=
NM_004802.3:c.1990T>C	NP_004793.2:p.Leu664=
NM_194248.2:c.4291T>C	NP_919224.1:p.Leu1431=
NM_194322.2:c.2221T>C	NP_919303.1:p.Leu741=
NM_194323.2:c.1990T>C	NP_919304.1:p.Leu664=
XM_005264644.2:c.4276T>C	XP_005264701.1:p.Leu1426=
XM_011533185.1:c.4336T>C	XP_011531487.1:p.Leu1446=
XM_017005338.1:c.4231T>C	XP_016860827.1:p.Leu1411=
NM_001287489.2:c.4291T>C	NP_001274418.1:p.Leu1431=
NM_004802.4:c.1990T>C	NP_004793.2:p.Leu664=
NM_194248.3:c.4291T>C MANE Select	NP_919224.1:p.Leu1431=
NM_194322.3:c.2221T>C	NP_919303.1:p.Leu741=
NM_194323.3:c.1990T>C MANE Plus Clinical	NP_919304.1:p.Leu664=