Canonical Allele Identifier: CA2573131593
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1404874
ClinVar RCV Id: RCV001927851
dbSNP Id: rs2102666781
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675385_215675394del , CM000663.2:g.215675385_215675394del GRCh38
NC_000001.10:g.215848727_215848736del , CM000663.1:g.215848727_215848736del GRCh37
NC_000001.9:g.213915350_213915359del NCBI36
NG_009497.1:g.753009_753018del
NG_009497.2:g.753061_753070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12523_12532del MANE Select ENSP00000305941.3:p.Trp4175LeufsTer8
ENST00000674083.1:c.12523_12532del ENSP00000501296.1:p.Trp4175LeufsTer8
ENST00000307340.7:c.12523_12532del ENSP00000305941.3:p.Trp4175LeufsTer8
NM_206933.2:c.12523_12532del NP_996816.2:p.Trp4175LeufsTer8
NM_206933.3:c.12523_12532del NP_996816.2:p.Trp4175LeufsTer8
NM_206933.4:c.12523_12532del MANE Select NP_996816.3:p.Trp4175LeufsTer8
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