Canonical Allele Identifier: CA400968028

Gene: OTOP2 USH1G

Linked Data

• gnomAD v4: 17-74922956-C-A
• MyVariant Identifiers: chr17:g.72919051C>A (hg19) ; chr17:g.74922956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922956C>A , CM000679.2:g.74922956C>A	GRCh38
NC_000017.10:g.72919051C>A , CM000679.1:g.72919051C>A	GRCh37
NC_000017.9:g.70430646C>A	NCBI36
NG_007882.1:g.5301G>T
NG_033062.1:g.3682C>A
NG_007882.2:g.5308G>T
NG_033062.2:g.3682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580223.2:c.-309C>A (OTOP2)	ENSP00000463837.2:n.-309C>A
ENST00000614341.5:c.118G>T (USH1G) MANE Select	ENSP00000480279.1:p.Ala40Ser
ENST00000579243.1:c.118G>T (USH1G)	ENSP00000462568.1:p.Ala40Ser
ENST00000614341.4:c.118G>T (USH1G)	ENSP00000480279.1:p.Ala40Ser
NM_001282489.2:c.-139G>T (USH1G)	NP_001269418.1:n.-139G>T
NM_173477.4:c.118G>T (USH1G)	NP_775748.2:p.Ala40Ser
XM_011525479.2:c.-309C>A (OTOP2)	XP_011523781.1:n.-309C>A
NM_173477.5:c.118G>T (USH1G) MANE Select	NP_775748.2:p.Ala40Ser
NM_001282489.3:c.-139G>T (USH1G)	NP_001269418.1:n.-139G>T