Canonical Allele Identifier: CA400968019

Gene: OTOP2 USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72919048A>G (hg19) ; chr17:g.74922953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922953A>G , CM000679.2:g.74922953A>G	GRCh38
NC_000017.10:g.72919048A>G , CM000679.1:g.72919048A>G	GRCh37
NC_000017.9:g.70430643A>G	NCBI36
NG_007882.1:g.5304T>C
NG_033062.1:g.3679A>G
NG_007882.2:g.5311T>C
NG_033062.2:g.3679A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580223.2:c.-312A>G (OTOP2)	ENSP00000463837.2:n.-312A>G
ENST00000614341.5:c.121T>C (USH1G) MANE Select	ENSP00000480279.1:p.Tyr41His
ENST00000579243.1:c.121T>C (USH1G)	ENSP00000462568.1:p.Tyr41His
ENST00000614341.4:c.121T>C (USH1G)	ENSP00000480279.1:p.Tyr41His
NM_001282489.2:c.-136T>C (USH1G)	NP_001269418.1:n.-136T>C
NM_173477.4:c.121T>C (USH1G)	NP_775748.2:p.Tyr41His
NM_173477.5:c.121T>C (USH1G) MANE Select	NP_775748.2:p.Tyr41His
NM_001282489.3:c.-136T>C (USH1G)	NP_001269418.1:n.-136T>C