Canonical Allele Identifier: CA425206551

Gene: OTOF

Linked Data

• ClinVar Variation Id: 1958401
• ClinVar RCV Id: RCV002696044
• dbSNP Id: rs1490673611
• gnomAD v2: 2-26682980-C-G
• gnomAD v4: 2-26460112-C-G
• MyVariant Identifiers: chr2:g.26682980C>G (hg19) ; chr2:g.26460112C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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