Canonical Allele Identifier: CA346127983

Gene: OTOF

Linked Data

• gnomAD v4: 2-26460180-A-G
• MyVariant Identifiers: chr2:g.26683048A>G (hg19) ; chr2:g.26460180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460180A>G , CM000664.2:g.26460180A>G	GRCh38
NC_000002.11:g.26683048A>G , CM000664.1:g.26683048A>G	GRCh37
NC_000002.10:g.26536552A>G	NCBI36
NG_009937.1:g.103519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5839T>C MANE Select	ENSP00000272371.2:p.Phe1947Leu
ENST00000339598.8:c.3512+467T>C MANE Plus Clinical	ENSP00000344521.3:n.3512+467T>C
ENST00000402415.8:c.3598T>C	ENSP00000383906.4:p.Phe1200Leu
ENST00000272371.6:c.5839T>C	ENSP00000272371.2:p.Phe1947Leu
ENST00000338581.10:c.3538T>C	ENSP00000345137.6:p.Phe1180Leu
ENST00000339598.7:c.3512+467T>C	ENSP00000344521.3:n.3512+467T>C
ENST00000402415.7:c.3769T>C	ENSP00000383906.3:p.Phe1257Leu
ENST00000403946.7:c.5813+467T>C	ENSP00000385255.3:n.5813+467T>C
NM_001287489.1:c.5813+467T>C	NP_001274418.1:n.5813+467T>C
NM_004802.3:c.3538T>C	NP_004793.2:p.Phe1180Leu
NM_194248.2:c.5839T>C	NP_919224.1:p.Phe1947Leu
NM_194322.2:c.3769T>C	NP_919303.1:p.Phe1257Leu
NM_194323.2:c.3512+467T>C	NP_919304.1:n.3512+467T>C
XM_005264644.2:c.5798+467T>C	XP_005264701.1:n.5798+467T>C
XM_011533185.1:c.5858+467T>C	XP_011531487.1:n.5858+467T>C
XM_017005338.1:c.5779T>C	XP_016860827.1:p.Phe1927Leu
NM_001287489.2:c.5813+467T>C	NP_001274418.1:n.5813+467T>C
NM_004802.4:c.3538T>C	NP_004793.2:p.Phe1180Leu
NM_194248.3:c.5839T>C MANE Select	NP_919224.1:p.Phe1947Leu
NM_194322.3:c.3769T>C	NP_919303.1:p.Phe1257Leu
NM_194323.3:c.3512+467T>C MANE Plus Clinical	NP_919304.1:n.3512+467T>C