Canonical Allele Identifier: CA274501
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 189250
ClinVar RCV Id: RCV003454428
dbSNP Id: rs750228923
ExAC: 1:216497623 AT / A
gnomAD v2: 1-216497623-AT-A
gnomAD v3: 1-216324281-AT-A
gnomAD v4: 1-216324281-AT-A
MyVariant Identifiers: chr1:g.216497624del (hg19) chr1:g.216324282del (hg38)
PubMed: PMID:15671307 PMID:16098008 PMID:18641288 PMID:22004887
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216324285del , CM000663.2:g.216324285del GRCh38
NC_000001.10:g.216497627del , CM000663.1:g.216497627del GRCh37
NC_000001.9:g.214564250del NCBI36
NG_009497.1:g.104115del
NG_009497.2:g.104167del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.1214del MANE Select ENSP00000305941.3:p.Asn405IlefsTer3
ENST00000674083.1:c.1214del ENSP00000501296.1:p.Asn405IlefsTer3
ENST00000307340.7:c.1214del ENSP00000305941.3:p.Asn405IlefsTer3
ENST00000366942.3:c.1214del ENSP00000355909.3:p.Asn405IlefsTer3
NM_007123.5:c.1214del NP_009054.5:p.Asn405IlefsTer3
NM_206933.2:c.1214del NP_996816.2:p.Asn405IlefsTer3
NM_206933.3:c.1214del NP_996816.2:p.Asn405IlefsTer3
NM_007123.6:c.1214del NP_009054.6:p.Asn405IlefsTer3
NM_206933.4:c.1214del MANE Select NP_996816.3:p.Asn405IlefsTer3
Search 100 bp 5'
Search 100 bp 3'