Canonical Allele Identifier: CA2695199988
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2679441
ClinVar RCV Id: RCV003466500
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728300_215728312del , CM000663.2:g.215728300_215728312del GRCh38
NC_000001.10:g.215901642_215901654del , CM000663.1:g.215901642_215901654del GRCh37
NC_000001.9:g.213968265_213968277del NCBI36
NG_009497.1:g.700088_700100del
NG_009497.2:g.700140_700152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11787_11799del MANE Select ENSP00000305941.3:p.Asp3930LeufsTer24
ENST00000674083.1:c.11787_11799del ENSP00000501296.1:p.Asp3930LeufsTer24
ENST00000307340.7:c.11787_11799del ENSP00000305941.3:p.Asp3930LeufsTer24
NM_206933.2:c.11787_11799del NP_996816.2:p.Asp3930LeufsTer24
NM_206933.3:c.11787_11799del NP_996816.2:p.Asp3930LeufsTer24
NM_206933.4:c.11787_11799del MANE Select NP_996816.3:p.Asp3930LeufsTer24
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