Canonical Allele Identifier: CA142884

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48233
• ClinVar RCV Id: RCV000041542 ; RCV000992480 ; RCV001141641
• dbSNP Id: rs149236286
• ExAC: 2:26689997 G / A
• gnomAD v2: 2-26689997-G-A
• gnomAD v3: 2-26467129-G-A
• gnomAD v4: 2-26467129-G-A
• MyVariant Identifiers: chr2:g.26689997G>A (hg19) ; chr2:g.26467129G>A (hg38)
• PubMed: PMID:18381613

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467129G>A , CM000664.2:g.26467129G>A	GRCh38
NC_000002.11:g.26689997G>A , CM000664.1:g.26689997G>A	GRCh37
NC_000002.10:g.26543501G>A	NCBI36
NG_009937.1:g.96570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4332C>T MANE Select	ENSP00000272371.2:p.Thr1444=
ENST00000339598.8:c.2031C>T MANE Plus Clinical	ENSP00000344521.3:p.Thr677=
ENST00000402415.8:c.2091C>T	ENSP00000383906.4:p.Thr697=
ENST00000272371.6:c.4332C>T	ENSP00000272371.2:p.Thr1444=
ENST00000338581.10:c.2031C>T	ENSP00000345137.6:p.Thr677=
ENST00000339598.7:c.2031C>T	ENSP00000344521.3:p.Thr677=
ENST00000402415.7:c.2262C>T	ENSP00000383906.3:p.Thr754=
ENST00000403946.7:c.4332C>T	ENSP00000385255.3:p.Thr1444=
NM_001287489.1:c.4332C>T	NP_001274418.1:p.Thr1444=
NM_004802.3:c.2031C>T	NP_004793.2:p.Thr677=
NM_194248.2:c.4332C>T	NP_919224.1:p.Thr1444=
NM_194322.2:c.2262C>T	NP_919303.1:p.Thr754=
NM_194323.2:c.2031C>T	NP_919304.1:p.Thr677=
XM_005264644.2:c.4317C>T	XP_005264701.1:p.Thr1439=
XM_011533185.1:c.4377C>T	XP_011531487.1:p.Thr1459=
XM_017005338.1:c.4272C>T	XP_016860827.1:p.Thr1424=
NM_001287489.2:c.4332C>T	NP_001274418.1:p.Thr1444=
NM_004802.4:c.2031C>T	NP_004793.2:p.Thr677=
NM_194248.3:c.4332C>T MANE Select	NP_919224.1:p.Thr1444=
NM_194322.3:c.2262C>T	NP_919303.1:p.Thr754=
NM_194323.3:c.2031C>T MANE Plus Clinical	NP_919304.1:p.Thr677=