Canonical Allele Identifier: CA346139820

Gene: OTOF

Linked Data

• gnomAD v4: 2-26519111-T-C
• MyVariant Identifiers: chr2:g.26741979T>C (hg19) ; chr2:g.26519111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26519111T>C , CM000664.2:g.26519111T>C	GRCh38
NC_000002.11:g.26741979T>C , CM000664.1:g.26741979T>C	GRCh37
NC_000002.10:g.26595483T>C	NCBI36
NG_009937.1:g.44588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.228-2A>G MANE Select	ENSP00000272371.2:n.228-2A>G
ENST00000272371.6:c.228-2A>G	ENSP00000272371.2:n.228-2A>G
ENST00000403946.7:c.228-2A>G	ENSP00000385255.3:n.228-2A>G
NM_001287489.1:c.228-2A>G	NP_001274418.1:n.228-2A>G
NM_194248.2:c.228-2A>G	NP_919224.1:n.228-2A>G
XM_005264644.2:c.228-2A>G	XP_005264701.1:n.228-2A>G
XM_011533185.1:c.228-2A>G	XP_011531487.1:n.228-2A>G
XM_017005338.1:c.228-2A>G	XP_016860827.1:n.228-2A>G
NM_001287489.2:c.228-2A>G	NP_001274418.1:n.228-2A>G
NM_194248.3:c.228-2A>G MANE Select	NP_919224.1:n.228-2A>G