Canonical Allele Identifier: CA400968010

Gene: OTOP2 USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72919047T>A (hg19) ; chr17:g.74922952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922952T>A , CM000679.2:g.74922952T>A	GRCh38
NC_000017.10:g.72919047T>A , CM000679.1:g.72919047T>A	GRCh37
NC_000017.9:g.70430642T>A	NCBI36
NG_007882.1:g.5305A>T
NG_033062.1:g.3678T>A
NG_007882.2:g.5312A>T
NG_033062.2:g.3678T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000580223.2:c.-313T>A (OTOP2)	ENSP00000463837.2:n.-313T>A
ENST00000614341.5:c.122A>T (USH1G) MANE Select	ENSP00000480279.1:p.Tyr41Phe
ENST00000579243.1:c.122A>T (USH1G)	ENSP00000462568.1:p.Tyr41Phe
ENST00000614341.4:c.122A>T (USH1G)	ENSP00000480279.1:p.Tyr41Phe
NM_001282489.2:c.-135A>T (USH1G)	NP_001269418.1:n.-135A>T
NM_173477.4:c.122A>T (USH1G)	NP_775748.2:p.Tyr41Phe
NM_173477.5:c.122A>T (USH1G) MANE Select	NP_775748.2:p.Tyr41Phe
NM_001282489.3:c.-135A>T (USH1G)	NP_001269418.1:n.-135A>T