Canonical Allele Identifier: CA346135196

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26688538A>C (hg19) ; chr2:g.26465670A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26465670A>C , CM000664.2:g.26465670A>C	GRCh38
NC_000002.11:g.26688538A>C , CM000664.1:g.26688538A>C	GRCh37
NC_000002.10:g.26542042A>C	NCBI36
NG_009937.1:g.98029T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.4799+2T>G MANE Select	ENSP00000272371.2:n.4799+2T>G
ENST00000339598.8:c.2498+2T>G MANE Plus Clinical	ENSP00000344521.3:n.2498+2T>G
ENST00000402415.8:c.2558+2T>G	ENSP00000383906.4:n.2558+2T>G
ENST00000272371.6:c.4799+2T>G	ENSP00000272371.2:n.4799+2T>G
ENST00000338581.10:c.2498+2T>G	ENSP00000345137.6:n.2498+2T>G
ENST00000339598.7:c.2498+2T>G	ENSP00000344521.3:n.2498+2T>G
ENST00000402415.7:c.2729+2T>G	ENSP00000383906.3:n.2729+2T>G
ENST00000403946.7:c.4799+2T>G	ENSP00000385255.3:n.4799+2T>G
ENST00000464574.1:n.548+2T>G
NM_001287489.1:c.4799+2T>G	NP_001274418.1:n.4799+2T>G
NM_004802.3:c.2498+2T>G	NP_004793.2:n.2498+2T>G
NM_194248.2:c.4799+2T>G	NP_919224.1:n.4799+2T>G
NM_194322.2:c.2729+2T>G	NP_919303.1:n.2729+2T>G
NM_194323.2:c.2498+2T>G	NP_919304.1:n.2498+2T>G
XM_005264644.2:c.4784+2T>G	XP_005264701.1:n.4784+2T>G
XM_011533185.1:c.4844+2T>G	XP_011531487.1:n.4844+2T>G
XM_017005338.1:c.4739+2T>G	XP_016860827.1:n.4739+2T>G
NM_001287489.2:c.4799+2T>G	NP_001274418.1:n.4799+2T>G
NM_004802.4:c.2498+2T>G	NP_004793.2:n.2498+2T>G
NM_194248.3:c.4799+2T>G MANE Select	NP_919224.1:n.4799+2T>G
NM_194322.3:c.2729+2T>G	NP_919303.1:n.2729+2T>G
NM_194323.3:c.2498+2T>G MANE Plus Clinical	NP_919304.1:n.2498+2T>G