Canonical Allele Identifier: CA346127530
Gene: OTOF HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.26702195C>T (hg19) chr2:g.26479327C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26479327C>T , CM000664.2:g.26479327C>T GRCh38
NC_000002.11:g.26702195C>T , CM000664.1:g.26702195C>T GRCh37
NC_000002.10:g.26555699C>T NCBI36
NG_009937.1:g.84372G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2151G>A MANE Select ENSP00000272371.2:p.Trp717Ter
ENST00000272371.6:c.2151G>A ENSP00000272371.2:p.Trp717Ter
ENST00000403946.7:c.2151G>A ENSP00000385255.3:p.Trp717Ter
NM_001287489.1:c.2151G>A NP_001274418.1:p.Trp717Ter
NM_194248.2:c.2151G>A NP_919224.1:p.Trp717Ter
XM_005264644.2:c.2196G>A XP_005264701.1:p.Trp732Ter
XM_011533185.1:c.2196G>A XP_011531487.1:p.Trp732Ter
XM_017005338.1:c.2151G>A XP_016860827.1:p.Trp717Ter
NM_001287489.2:c.2151G>A NP_001274418.1:p.Trp717Ter
NM_194248.3:c.2151G>A MANE Select NP_919224.1:p.Trp717Ter
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