Canonical Allele Identifier: CA400968011

Gene: OTOP2 USH1G

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000580223.2:c.-313T>G (OTOP2)	ENSP00000463837.2:n.-313T>G
ENST00000614341.5:c.122A>C (USH1G) MANE Select	ENSP00000480279.1:p.Tyr41Ser
ENST00000579243.1:c.122A>C (USH1G)	ENSP00000462568.1:p.Tyr41Ser
ENST00000614341.4:c.122A>C (USH1G)	ENSP00000480279.1:p.Tyr41Ser
NM_001282489.2:c.-135A>C (USH1G)	NP_001269418.1:n.-135A>C
NM_173477.4:c.122A>C (USH1G)	NP_775748.2:p.Tyr41Ser
NM_173477.5:c.122A>C (USH1G) MANE Select	NP_775748.2:p.Tyr41Ser
NM_001282489.3:c.-135A>C (USH1G)	NP_001269418.1:n.-135A>C