Canonical Allele Identifier: CA400968025

Gene: OTOP2 USH1G

Linked Data

• gnomAD v4: 17-74922955-G-T
• MyVariant Identifiers: chr17:g.72919050G>T (hg19) ; chr17:g.74922955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922955G>T , CM000679.2:g.74922955G>T	GRCh38
NC_000017.10:g.72919050G>T , CM000679.1:g.72919050G>T	GRCh37
NC_000017.9:g.70430645G>T	NCBI36
NG_007882.1:g.5302C>A
NG_033062.1:g.3681G>T
NG_007882.2:g.5309C>A
NG_033062.2:g.3681G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000580223.2:c.-310G>T (OTOP2)	ENSP00000463837.2:n.-310G>T
ENST00000614341.5:c.119C>A (USH1G) MANE Select	ENSP00000480279.1:p.Ala40Asp
ENST00000579243.1:c.119C>A (USH1G)	ENSP00000462568.1:p.Ala40Asp
ENST00000614341.4:c.119C>A (USH1G)	ENSP00000480279.1:p.Ala40Asp
NM_001282489.2:c.-138C>A (USH1G)	NP_001269418.1:n.-138C>A
NM_173477.4:c.119C>A (USH1G)	NP_775748.2:p.Ala40Asp
XM_011525479.2:c.-310G>T (OTOP2)	XP_011523781.1:n.-310G>T
NM_173477.5:c.119C>A (USH1G) MANE Select	NP_775748.2:p.Ala40Asp
NM_001282489.3:c.-138C>A (USH1G)	NP_001269418.1:n.-138C>A