Canonical Allele Identifier: CA2580062133
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1725673
ClinVar RCV Id: RCV002309357
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246969_216246971delinsATAAG , CM000663.2:g.216246969_216246971delinsATAAG GRCh38
NC_000001.10:g.216420311_216420313delinsATAAG , CM000663.1:g.216420311_216420313delinsATAAG GRCh37
NC_000001.9:g.214486934_214486936delinsATAAG NCBI36
NG_009497.1:g.181426_181428delinsCTTAT
NG_009497.2:g.181478_181480delinsCTTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2423_2425delinsCTTAT MANE Select ENSP00000305941.3:p.Cys808SerfsTer?
ENST00000674083.1:c.2423_2425delinsCTTAT ENSP00000501296.1:p.Cys808SerfsTer?
ENST00000307340.7:c.2423_2425delinsCTTAT ENSP00000305941.3:p.Cys808SerfsTer?
ENST00000366942.3:c.2423_2425delinsCTTAT ENSP00000355909.3:p.Cys808SerfsTer?
NM_007123.5:c.2423_2425delinsCTTAT NP_009054.5:p.Cys808SerfsTer?
NM_206933.2:c.2423_2425delinsCTTAT NP_996816.2:p.Cys808SerfsTer?
NM_206933.3:c.2423_2425delinsCTTAT NP_996816.2:p.Cys808SerfsTer?
NM_007123.6:c.2423_2425delinsCTTAT NP_009054.6:p.Cys808SerfsTer?
NM_206933.4:c.2423_2425delinsCTTAT MANE Select NP_996816.3:p.Cys808SerfsTer?
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