Canonical Allele Identifier: CA2580062130
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1724100
ClinVar RCV Id: RCV002306655
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246925_216246926insTTATA , CM000663.2:g.216246925_216246926insTTATA GRCh38
NC_000001.10:g.216420267_216420268insTTATA , CM000663.1:g.216420267_216420268insTTATA GRCh37
NC_000001.9:g.214486890_214486891insTTATA NCBI36
NG_009497.1:g.181471_181472insTATAA
NG_009497.2:g.181523_181524insTATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2468_2469insTATAA MANE Select ENSP00000305941.3:p.Arg824IlefsTer?
ENST00000674083.1:c.2468_2469insTATAA ENSP00000501296.1:p.Arg824IlefsTer?
ENST00000307340.7:c.2468_2469insTATAA ENSP00000305941.3:p.Arg824IlefsTer?
ENST00000366942.3:c.2468_2469insTATAA ENSP00000355909.3:p.Arg824IlefsTer?
NM_007123.5:c.2468_2469insTATAA NP_009054.5:p.Arg824IlefsTer?
NM_206933.2:c.2468_2469insTATAA NP_996816.2:p.Arg824IlefsTer?
NM_206933.3:c.2468_2469insTATAA NP_996816.2:p.Arg824IlefsTer?
NM_007123.6:c.2468_2469insTATAA NP_009054.6:p.Arg824IlefsTer?
NM_206933.4:c.2468_2469insTATAA MANE Select NP_996816.3:p.Arg824IlefsTer?
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