Canonical Allele Identifier: CA2580062167
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2004868
ClinVar RCV Id: RCV002820606
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728117_215728118delinsAA , CM000663.2:g.215728117_215728118delinsAA GRCh38
NC_000001.10:g.215901459_215901460delinsAA , CM000663.1:g.215901459_215901460delinsAA GRCh37
NC_000001.9:g.213968082_213968083delinsAA NCBI36
NG_009497.1:g.700279_700280delinsTT
NG_009497.2:g.700331_700332delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11978_11979delinsTT MANE Select ENSP00000305941.3:p.Gly3993Val
ENST00000674083.1:c.11978_11979delinsTT ENSP00000501296.1:p.Gly3993Val
ENST00000307340.7:c.11978_11979delinsTT ENSP00000305941.3:p.Gly3993Val
NM_206933.2:c.11978_11979delinsTT NP_996816.2:p.Gly3993Val
NM_206933.3:c.11978_11979delinsTT NP_996816.2:p.Gly3993Val
NM_206933.4:c.11978_11979delinsTT MANE Select NP_996816.3:p.Gly3993Val
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