Canonical Allele Identifier: CA346131667

Gene: OTOF

Linked Data

• ClinVar Variation Id: 562082
• ClinVar RCV Id: RCV000681535 ; RCV001291116
• dbSNP Id: rs1558488902
• MyVariant Identifiers: chr2:g.26703079A>T (hg19) ; chr2:g.26480211A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480211A>T , CM000664.2:g.26480211A>T	GRCh38
NC_000002.11:g.26703079A>T , CM000664.1:g.26703079A>T	GRCh37
NC_000002.10:g.26556583A>T	NCBI36
NG_009937.1:g.83488T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1904T>A MANE Select	ENSP00000272371.2:p.Val635Asp
ENST00000272371.6:c.1904T>A	ENSP00000272371.2:p.Val635Asp
ENST00000403946.7:c.1904T>A	ENSP00000385255.3:p.Val635Asp
NM_001287489.1:c.1904T>A	NP_001274418.1:p.Val635Asp
NM_194248.2:c.1904T>A	NP_919224.1:p.Val635Asp
XM_005264644.2:c.1949T>A	XP_005264701.1:p.Val650Asp
XM_011533185.1:c.1949T>A	XP_011531487.1:p.Val650Asp
XM_017005338.1:c.1904T>A	XP_016860827.1:p.Val635Asp
NM_001287489.2:c.1904T>A	NP_001274418.1:p.Val635Asp
NM_194248.3:c.1904T>A MANE Select	NP_919224.1:p.Val635Asp