Canonical Allele Identifier: CA2573131550
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1683413
ClinVar RCV Id: RCV002238688
dbSNP Id: rs2102661317
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671093_215671099del , CM000663.2:g.215671093_215671099del GRCh38
NC_000001.10:g.215844435_215844441del , CM000663.1:g.215844435_215844441del GRCh37
NC_000001.9:g.213911058_213911064del NCBI36
NG_009497.1:g.757302_757308del
NG_009497.2:g.757354_757360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14010_14016del MANE Select ENSP00000305941.3:p.Glu4671ThrfsTer5
ENST00000674083.1:c.14010_14016del ENSP00000501296.1:p.Glu4671ThrfsTer5
ENST00000307340.7:c.14010_14016del ENSP00000305941.3:p.Glu4671ThrfsTer5
NM_206933.2:c.14010_14016del NP_996816.2:p.Glu4671ThrfsTer5
NM_206933.3:c.14010_14016del NP_996816.2:p.Glu4671ThrfsTer5
NM_206933.4:c.14010_14016del MANE Select NP_996816.3:p.Glu4671ThrfsTer5
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