Canonical Allele Identifier: CA346137448
Gene: OTOF HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.26690357G>C (hg19) chr2:g.26467489G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26467489G>C , CM000664.2:g.26467489G>C GRCh38
NC_000002.11:g.26690357G>C , CM000664.1:g.26690357G>C GRCh37
NC_000002.10:g.26543861G>C NCBI36
NG_009937.1:g.96210C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.4103C>G MANE Select ENSP00000272371.2:p.Ser1368Ter
ENST00000339598.8:c.1802C>G MANE Plus Clinical ENSP00000344521.3:p.Ser601Ter
ENST00000402415.8:c.1862C>G ENSP00000383906.4:p.Ser621Ter
ENST00000272371.6:c.4103C>G ENSP00000272371.2:p.Ser1368Ter
ENST00000338581.10:c.1802C>G ENSP00000345137.6:p.Ser601Ter
ENST00000339598.7:c.1802C>G ENSP00000344521.3:p.Ser601Ter
ENST00000402415.7:c.2033C>G ENSP00000383906.3:p.Ser678Ter
ENST00000403946.7:c.4103C>G ENSP00000385255.3:p.Ser1368Ter
NM_001287489.1:c.4103C>G NP_001274418.1:p.Ser1368Ter
NM_004802.3:c.1802C>G NP_004793.2:p.Ser601Ter
NM_194248.2:c.4103C>G NP_919224.1:p.Ser1368Ter
NM_194322.2:c.2033C>G NP_919303.1:p.Ser678Ter
NM_194323.2:c.1802C>G NP_919304.1:p.Ser601Ter
XM_005264644.2:c.4088C>G XP_005264701.1:p.Ser1363Ter
XM_011533185.1:c.4148C>G XP_011531487.1:p.Ser1383Ter
XM_017005338.1:c.4043C>G XP_016860827.1:p.Ser1348Ter
NM_001287489.2:c.4103C>G NP_001274418.1:p.Ser1368Ter
NM_004802.4:c.1802C>G NP_004793.2:p.Ser601Ter
NM_194248.3:c.4103C>G MANE Select NP_919224.1:p.Ser1368Ter
NM_194322.3:c.2033C>G NP_919303.1:p.Ser678Ter
NM_194323.3:c.1802C>G MANE Plus Clinical NP_919304.1:p.Ser601Ter
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