Canonical Allele Identifier: CA143350

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48437
• ClinVar RCV Id: RCV000041760 ; RCV000828962 ; RCV001099109 ; RCV001099108 ; RCV003887896
• dbSNP Id: rs35730265
• ExAC: 1:216496932 C / G
• gnomAD v2: 1-216496932-C-G
• gnomAD v3: 1-216323590-C-G
• gnomAD v4: 1-216323590-C-G
• MyVariant Identifiers: chr1:g.216496932C>G (hg19) ; chr1:g.216323590C>G (hg38)
• PubMed: PMID:10738000 ; PMID:15325563 ; PMID:16098008 ; PMID:16963483 ; PMID:17296898 ; PMID:18273898

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216323590C>G , CM000663.2:g.216323590C>G	GRCh38
NC_000001.10:g.216496932C>G , CM000663.1:g.216496932C>G	GRCh37
NC_000001.9:g.214563555C>G	NCBI36
NG_009497.1:g.104807G>C
NG_009497.2:g.104859G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1434G>C MANE Select	ENSP00000305941.3:p.Glu478Asp
ENST00000674083.1:c.1434G>C	ENSP00000501296.1:p.Glu478Asp
ENST00000307340.7:c.1434G>C	ENSP00000305941.3:p.Glu478Asp
ENST00000366942.3:c.1434G>C	ENSP00000355909.3:p.Glu478Asp
NM_007123.5:c.1434G>C	NP_009054.5:p.Glu478Asp
NM_206933.2:c.1434G>C	NP_996816.2:p.Glu478Asp
NM_206933.3:c.1434G>C	NP_996816.2:p.Glu478Asp
NM_007123.6:c.1434G>C	NP_009054.6:p.Glu478Asp
NM_206933.4:c.1434G>C MANE Select	NP_996816.3:p.Glu478Asp