Canonical Allele Identifier: CA346124949

Gene: OTOF

Linked Data

• gnomAD v4: 2-26477842-A-C
• MyVariant Identifiers: chr2:g.26700710A>C (hg19) ; chr2:g.26477842A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477842A>C , CM000664.2:g.26477842A>C	GRCh38
NC_000002.11:g.26700710A>C , CM000664.1:g.26700710A>C	GRCh37
NC_000002.10:g.26554214A>C	NCBI36
NG_009937.1:g.85857T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2215-93T>G MANE Select	ENSP00000272371.2:n.2215-93T>G
ENST00000339598.8:c.-28+2T>G MANE Plus Clinical	ENSP00000344521.3:n.-28+2T>G
ENST00000402415.8:c.-120T>G	ENSP00000383906.4:n.-120T>G
ENST00000272371.6:c.2215-93T>G	ENSP00000272371.2:n.2215-93T>G
ENST00000338581.10:c.-28+2T>G	ENSP00000345137.6:n.-28+2T>G
ENST00000339598.7:c.-28+2T>G	ENSP00000344521.3:n.-28+2T>G
ENST00000402415.7:c.52T>G	ENSP00000383906.3:p.Ser18Ala
ENST00000403946.7:c.2215-93T>G	ENSP00000385255.3:n.2215-93T>G
NM_001287489.1:c.2215-93T>G	NP_001274418.1:n.2215-93T>G
NM_004802.3:c.-28+2T>G	NP_004793.2:n.-28+2T>G
NM_194248.2:c.2215-93T>G	NP_919224.1:n.2215-93T>G
NM_194322.2:c.52T>G	NP_919303.1:p.Ser18Ala
NM_194323.2:c.-28+2T>G	NP_919304.1:n.-28+2T>G
XM_005264644.2:c.2260-93T>G	XP_005264701.1:n.2260-93T>G
XM_011533185.1:c.2260-93T>G	XP_011531487.1:n.2260-93T>G
XM_017005338.1:c.2215-93T>G	XP_016860827.1:n.2215-93T>G
NM_001287489.2:c.2215-93T>G	NP_001274418.1:n.2215-93T>G
NM_004802.4:c.-28+2T>G	NP_004793.2:n.-28+2T>G
NM_194248.3:c.2215-93T>G MANE Select	NP_919224.1:n.2215-93T>G
NM_194322.3:c.52T>G	NP_919303.1:p.Ser18Ala
NM_194323.3:c.-28+2T>G MANE Plus Clinical	NP_919304.1:n.-28+2T>G