Canonical Allele Identifier: CA346124254
Gene: OTOF HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.26700618C>A (hg19) chr2:g.26477750C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477750C>A , CM000664.2:g.26477750C>A GRCh38
NC_000002.11:g.26700618C>A , CM000664.1:g.26700618C>A GRCh37
NC_000002.10:g.26554122C>A NCBI36
NG_009937.1:g.85949G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2215-1G>T MANE Select ENSP00000272371.2:n.2215-1G>T
ENST00000339598.8:c.-27-1G>T MANE Plus Clinical ENSP00000344521.3:n.-27-1G>T
ENST00000402415.8:c.-28G>T ENSP00000383906.4:n.-28G>T
ENST00000272371.6:c.2215-1G>T ENSP00000272371.2:n.2215-1G>T
ENST00000338581.10:c.-27-1G>T ENSP00000345137.6:n.-27-1G>T
ENST00000339598.7:c.-27-1G>T ENSP00000344521.3:n.-27-1G>T
ENST00000402415.7:c.144G>T ENSP00000383906.3:p.Gln48His
ENST00000403946.7:c.2215-1G>T ENSP00000385255.3:n.2215-1G>T
NM_001287489.1:c.2215-1G>T NP_001274418.1:n.2215-1G>T
NM_004802.3:c.-27-1G>T NP_004793.2:n.-27-1G>T
NM_194248.2:c.2215-1G>T NP_919224.1:n.2215-1G>T
NM_194322.2:c.144G>T NP_919303.1:p.Gln48His
NM_194323.2:c.-27-1G>T NP_919304.1:n.-27-1G>T
XM_005264644.2:c.2260-1G>T XP_005264701.1:n.2260-1G>T
XM_011533185.1:c.2260-1G>T XP_011531487.1:n.2260-1G>T
XM_017005338.1:c.2215-1G>T XP_016860827.1:n.2215-1G>T
NM_001287489.2:c.2215-1G>T NP_001274418.1:n.2215-1G>T
NM_004802.4:c.-27-1G>T NP_004793.2:n.-27-1G>T
NM_194248.3:c.2215-1G>T MANE Select NP_919224.1:n.2215-1G>T
NM_194322.3:c.144G>T NP_919303.1:p.Gln48His
NM_194323.3:c.-27-1G>T MANE Plus Clinical NP_919304.1:n.-27-1G>T
Search 100 bp 5'
Search 100 bp 3'