Canonical Allele Identifier: CA142670

Gene: OTOP2 USH1G

Linked Data

• ClinVar Variation Id: 48139
• ClinVar RCV Id: RCV000041427 ; RCV000432648 ; RCV001127509
• dbSNP Id: rs145448362
• ExAC: 17:72919086 G / A
• gnomAD v2: 17-72919086-G-A
• gnomAD v3: 17-74922991-G-A
• gnomAD v4: 17-74922991-G-A
• MyVariant Identifiers: chr17:g.72919086G>A (hg19) ; chr17:g.74922991G>A (hg38)
• PubMed: PMID:17896313

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922991G>A , CM000679.2:g.74922991G>A	GRCh38
NC_000017.10:g.72919086G>A , CM000679.1:g.72919086G>A	GRCh37
NC_000017.9:g.70430681G>A	NCBI36
NG_007882.1:g.5266C>T
NG_033062.1:g.3717G>A
NG_007882.2:g.5273C>T
NG_033062.2:g.3717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580223.2:c.-274G>A (OTOP2)	ENSP00000463837.2:n.-274G>A
ENST00000614341.5:c.83C>T (USH1G) MANE Select	ENSP00000480279.1:p.Pro28Leu
ENST00000579243.1:c.83C>T (USH1G)	ENSP00000462568.1:p.Pro28Leu
ENST00000614341.4:c.83C>T (USH1G)	ENSP00000480279.1:p.Pro28Leu
NM_001282489.2:c.-174C>T (USH1G)	NP_001269418.1:n.-174C>T
NM_173477.4:c.83C>T (USH1G)	NP_775748.2:p.Pro28Leu
XM_011525479.1:c.-274G>A (OTOP2)	XP_011523781.1:n.-274G>A
XM_011525479.2:c.-274G>A (OTOP2)	XP_011523781.1:n.-274G>A
NM_173477.5:c.83C>T (USH1G) MANE Select	NP_775748.2:p.Pro28Leu
NM_001282489.3:c.-174C>T (USH1G)	NP_001269418.1:n.-174C>T