Canonical Allele Identifier: CA2580062065
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2086824
ClinVar RCV Id: RCV002999870
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671227_215671230del , CM000663.2:g.215671227_215671230del GRCh38
NC_000001.10:g.215844569_215844572del , CM000663.1:g.215844569_215844572del GRCh37
NC_000001.9:g.213911192_213911195del NCBI36
NG_009497.1:g.757169_757172del
NG_009497.2:g.757221_757224del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13877_13880del MANE Select ENSP00000305941.3:p.Gln4626ProfsTer7
ENST00000674083.1:c.13877_13880del ENSP00000501296.1:p.Gln4626ProfsTer7
ENST00000307340.7:c.13877_13880del ENSP00000305941.3:p.Gln4626ProfsTer7
NM_206933.2:c.13877_13880del NP_996816.2:p.Gln4626ProfsTer7
NM_206933.3:c.13877_13880del NP_996816.2:p.Gln4626ProfsTer7
NM_206933.4:c.13877_13880del MANE Select NP_996816.3:p.Gln4626ProfsTer7
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