Canonical Allele Identifier: CA1562723

Gene: OTOF

Linked Data

• dbSNP Id: rs755286413
• ExAC: 2:26683630 C / G
• gnomAD v2: 2-26683630-C-G
• gnomAD v4: 2-26460762-C-G
• MyVariant Identifiers: chr2:g.26683630C>G (hg19) ; chr2:g.26460762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460762C>G , CM000664.2:g.26460762C>G	GRCh38
NC_000002.11:g.26683630C>G , CM000664.1:g.26683630C>G	GRCh37
NC_000002.10:g.26537134C>G	NCBI36
NG_009937.1:g.102937G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5713-15G>C MANE Select	ENSP00000272371.2:n.5713-15G>C
ENST00000339598.8:c.3412-15G>C MANE Plus Clinical	ENSP00000344521.3:n.3412-15G>C
ENST00000402415.8:c.3472-15G>C	ENSP00000383906.4:n.3472-15G>C
ENST00000272371.6:c.5713-15G>C	ENSP00000272371.2:n.5713-15G>C
ENST00000338581.10:c.3412-15G>C	ENSP00000345137.6:n.3412-15G>C
ENST00000339598.7:c.3412-15G>C	ENSP00000344521.3:n.3412-15G>C
ENST00000402415.7:c.3643-15G>C	ENSP00000383906.3:n.3643-15G>C
ENST00000403946.7:c.5713-15G>C	ENSP00000385255.3:n.5713-15G>C
NM_001287489.1:c.5713-15G>C	NP_001274418.1:n.5713-15G>C
NM_004802.3:c.3412-15G>C	NP_004793.2:n.3412-15G>C
NM_194248.2:c.5713-15G>C	NP_919224.1:n.5713-15G>C
NM_194322.2:c.3643-15G>C	NP_919303.1:n.3643-15G>C
NM_194323.2:c.3412-15G>C	NP_919304.1:n.3412-15G>C
XM_005264644.2:c.5698-15G>C	XP_005264701.1:n.5698-15G>C
XM_011533185.1:c.5758-15G>C	XP_011531487.1:n.5758-15G>C
XM_017005338.1:c.5653-15G>C	XP_016860827.1:n.5653-15G>C
NM_001287489.2:c.5713-15G>C	NP_001274418.1:n.5713-15G>C
NM_004802.4:c.3412-15G>C	NP_004793.2:n.3412-15G>C
NM_194248.3:c.5713-15G>C MANE Select	NP_919224.1:n.5713-15G>C
NM_194322.3:c.3643-15G>C	NP_919303.1:n.3643-15G>C
NM_194323.3:c.3412-15G>C MANE Plus Clinical	NP_919304.1:n.3412-15G>C