Canonical Allele Identifier: CA400968005

Gene: OTOP2 USH1G

Linked Data

• gnomAD v4: 17-74922950-G-T
• MyVariant Identifiers: chr17:g.72919045G>T (hg19) ; chr17:g.74922950G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922950G>T , CM000679.2:g.74922950G>T	GRCh38
NC_000017.10:g.72919045G>T , CM000679.1:g.72919045G>T	GRCh37
NC_000017.9:g.70430640G>T	NCBI36
NG_007882.1:g.5307C>A
NG_033062.1:g.3676G>T
NG_007882.2:g.5314C>A
NG_033062.2:g.3676G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580223.2:c.-315G>T (OTOP2)	ENSP00000463837.2:n.-315G>T
ENST00000614341.5:c.124C>A (USH1G) MANE Select	ENSP00000480279.1:p.His42Asn
ENST00000579243.1:c.124C>A (USH1G)	ENSP00000462568.1:p.His42Asn
ENST00000614341.4:c.124C>A (USH1G)	ENSP00000480279.1:p.His42Asn
NM_001282489.2:c.-133C>A (USH1G)	NP_001269418.1:n.-133C>A
NM_173477.4:c.124C>A (USH1G)	NP_775748.2:p.His42Asn
NM_173477.5:c.124C>A (USH1G) MANE Select	NP_775748.2:p.His42Asn
NM_001282489.3:c.-133C>A (USH1G)	NP_001269418.1:n.-133C>A