Canonical Allele Identifier: CA531761836

Gene: OTOF

Linked Data

• dbSNP Id: rs987390512
• gnomAD v2: 2-26700171-G-T
• gnomAD v4: 2-26477303-G-T
• MyVariant Identifiers: chr2:g.26700171G>T (hg19) ; chr2:g.26477303G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477303G>T , CM000664.2:g.26477303G>T	GRCh38
NC_000002.11:g.26700171G>T , CM000664.1:g.26700171G>T	GRCh37
NC_000002.10:g.26553675G>T	NCBI36
NG_009937.1:g.86396C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2407-15C>A MANE Select	ENSP00000272371.2:n.2407-15C>A
ENST00000339598.8:c.166-15C>A MANE Plus Clinical	ENSP00000344521.3:n.166-15C>A
ENST00000402415.8:c.166-15C>A	ENSP00000383906.4:n.166-15C>A
ENST00000272371.6:c.2407-15C>A	ENSP00000272371.2:n.2407-15C>A
ENST00000338581.10:c.166-15C>A	ENSP00000345137.6:n.166-15C>A
ENST00000339598.7:c.166-15C>A	ENSP00000344521.3:n.166-15C>A
ENST00000402415.7:c.337-15C>A	ENSP00000383906.3:n.337-15C>A
ENST00000403946.7:c.2407-15C>A	ENSP00000385255.3:n.2407-15C>A
NM_001287489.1:c.2407-15C>A	NP_001274418.1:n.2407-15C>A
NM_004802.3:c.166-15C>A	NP_004793.2:n.166-15C>A
NM_194248.2:c.2407-15C>A	NP_919224.1:n.2407-15C>A
NM_194322.2:c.337-15C>A	NP_919303.1:n.337-15C>A
NM_194323.2:c.166-15C>A	NP_919304.1:n.166-15C>A
XM_005264644.2:c.2452-15C>A	XP_005264701.1:n.2452-15C>A
XM_011533185.1:c.2452-15C>A	XP_011531487.1:n.2452-15C>A
XM_017005338.1:c.2407-15C>A	XP_016860827.1:n.2407-15C>A
NM_001287489.2:c.2407-15C>A	NP_001274418.1:n.2407-15C>A
NM_004802.4:c.166-15C>A	NP_004793.2:n.166-15C>A
NM_194248.3:c.2407-15C>A MANE Select	NP_919224.1:n.2407-15C>A
NM_194322.3:c.337-15C>A	NP_919303.1:n.337-15C>A
NM_194323.3:c.166-15C>A MANE Plus Clinical	NP_919304.1:n.166-15C>A