Canonical Allele Identifier: CA117969
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 6140
ClinVar RCV Id: RCV000006514 RCV000021068
dbSNP Id: rs80356602
MyVariant Identifiers: chr2:g.26687736C>G (hg19) chr2:g.26464868C>G (hg38)
PubMed: PMID:12525542 PMID:20301429
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26464868C>G , CM000664.2:g.26464868C>G GRCh38
NC_000002.11:g.26687736C>G , CM000664.1:g.26687736C>G GRCh37
NC_000002.10:g.26541240C>G NCBI36
NG_009937.1:g.98831G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.4960+1G>C MANE Select ENSP00000272371.2:n.4960+1G>C
ENST00000339598.8:c.2659+1G>C MANE Plus Clinical ENSP00000344521.3:n.2659+1G>C
ENST00000402415.8:c.2719+1G>C ENSP00000383906.4:n.2719+1G>C
ENST00000272371.6:c.4960+1G>C ENSP00000272371.2:n.4960+1G>C
ENST00000338581.10:c.2659+1G>C ENSP00000345137.6:n.2659+1G>C
ENST00000339598.7:c.2659+1G>C ENSP00000344521.3:n.2659+1G>C
ENST00000402415.7:c.2890+1G>C ENSP00000383906.3:n.2890+1G>C
ENST00000403946.7:c.4960+1G>C ENSP00000385255.3:n.4960+1G>C
ENST00000464574.1:n.709+1G>C
NM_001287489.1:c.4960+1G>C NP_001274418.1:n.4960+1G>C
NM_004802.3:c.2659+1G>C NP_004793.2:n.2659+1G>C
NM_194248.2:c.4960+1G>C NP_919224.1:n.4960+1G>C
NM_194322.2:c.2890+1G>C NP_919303.1:n.2890+1G>C
NM_194323.2:c.2659+1G>C NP_919304.1:n.2659+1G>C
XM_005264644.2:c.4945+1G>C XP_005264701.1:n.4945+1G>C
XM_011533185.1:c.5005+1G>C XP_011531487.1:n.5005+1G>C
XM_017005338.1:c.4900+1G>C XP_016860827.1:n.4900+1G>C
NM_001287489.2:c.4960+1G>C NP_001274418.1:n.4960+1G>C
NM_004802.4:c.2659+1G>C NP_004793.2:n.2659+1G>C
NM_194248.3:c.4960+1G>C MANE Select NP_919224.1:n.4960+1G>C
NM_194322.3:c.2890+1G>C NP_919303.1:n.2890+1G>C
NM_194323.3:c.2659+1G>C MANE Plus Clinical NP_919304.1:n.2659+1G>C
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