Canonical Allele Identifier: CA501765320

Gene: OTOP2 USH1G

Linked Data

• gnomAD v4: 17-74922957-A-C
• MyVariant Identifiers: chr17:g.72919052A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922957A>C , CM000679.2:g.74922957A>C	GRCh38
NC_000017.10:g.72919052A>C , CM000679.1:g.72919052A>C	GRCh37
NC_000017.9:g.70430647A>C	NCBI36
NG_007882.1:g.5300T>G
NG_033062.1:g.3683A>C
NG_007882.2:g.5307T>G
NG_033062.2:g.3683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580223.2:c.-308A>C (OTOP2)	ENSP00000463837.2:n.-308A>C
ENST00000614341.5:c.117T>G (USH1G) MANE Select	ENSP00000480279.1:p.Ala39=
ENST00000579243.1:c.117T>G (USH1G)	ENSP00000462568.1:p.Ala39=
ENST00000614341.4:c.117T>G (USH1G)	ENSP00000480279.1:p.Ala39=
NM_001282489.2:c.-140T>G (USH1G)	NP_001269418.1:n.-140T>G
NM_173477.4:c.117T>G (USH1G)	NP_775748.2:p.Ala39=
XM_011525479.2:c.-308A>C (OTOP2)	XP_011523781.1:n.-308A>C
NM_173477.5:c.117T>G (USH1G) MANE Select	NP_775748.2:p.Ala39=
NM_001282489.3:c.-140T>G (USH1G)	NP_001269418.1:n.-140T>G