Canonical Allele Identifier: CA44400954
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs967256956
gnomAD v2: 2-26703620-G-T
gnomAD v3: 2-26480752-G-T
gnomAD v4: 2-26480752-G-T
MyVariant Identifiers: chr2:g.26703620G>T (hg19) chr2:g.26480752G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480752G>T , CM000664.2:g.26480752G>T GRCh38
NC_000002.11:g.26703620G>T , CM000664.1:g.26703620G>T GRCh37
NC_000002.10:g.26557124G>T NCBI36
NG_009937.1:g.82947C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.1803+34C>A MANE Select ENSP00000272371.2:n.1803+34C>A
ENST00000272371.6:c.1803+34C>A ENSP00000272371.2:n.1803+34C>A
ENST00000403946.7:c.1803+34C>A ENSP00000385255.3:n.1803+34C>A
NM_001287489.1:c.1803+34C>A NP_001274418.1:n.1803+34C>A
NM_194248.2:c.1803+34C>A NP_919224.1:n.1803+34C>A
XM_005264644.2:c.1848+34C>A XP_005264701.1:n.1848+34C>A
XM_011533185.1:c.1848+34C>A XP_011531487.1:n.1848+34C>A
XM_017005338.1:c.1803+34C>A XP_016860827.1:n.1803+34C>A
NM_001287489.2:c.1803+34C>A NP_001274418.1:n.1803+34C>A
NM_194248.3:c.1803+34C>A MANE Select NP_919224.1:n.1803+34C>A
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