Canonical Allele Identifier: CA501765301

Gene: OTOP2 USH1G

Linked Data

• ClinVar Variation Id: 2099118
• ClinVar RCV Id: RCV003021552
• dbSNP Id: rs2144759427
• gnomAD v4: 17-74922954-G-A
• MyVariant Identifiers: chr17:g.72919049G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922954G>A , CM000679.2:g.74922954G>A	GRCh38
NC_000017.10:g.72919049G>A , CM000679.1:g.72919049G>A	GRCh37
NC_000017.9:g.70430644G>A	NCBI36
NG_007882.1:g.5303C>T
NG_033062.1:g.3680G>A
NG_007882.2:g.5310C>T
NG_033062.2:g.3680G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000580223.2:c.-311G>A (OTOP2)	ENSP00000463837.2:n.-311G>A
ENST00000614341.5:c.120C>T (USH1G) MANE Select	ENSP00000480279.1:p.Ala40=
ENST00000579243.1:c.120C>T (USH1G)	ENSP00000462568.1:p.Ala40=
ENST00000614341.4:c.120C>T (USH1G)	ENSP00000480279.1:p.Ala40=
NM_001282489.2:c.-137C>T (USH1G)	NP_001269418.1:n.-137C>T
NM_173477.4:c.120C>T (USH1G)	NP_775748.2:p.Ala40=
NM_173477.5:c.120C>T (USH1G) MANE Select	NP_775748.2:p.Ala40=
NM_001282489.3:c.-137C>T (USH1G)	NP_001269418.1:n.-137C>T