Canonical Allele Identifier: CA2650505366
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215888964-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215888968del , CM000663.2:g.215888968del GRCh38
NC_000001.10:g.216062310del , CM000663.1:g.216062310del GRCh37
NC_000001.9:g.214128933del NCBI36
NG_009497.1:g.539432del
NG_009497.2:g.539484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7684del MANE Select ENSP00000305941.3:p.Val2562LeufsTer15
ENST00000674083.1:c.7684del ENSP00000501296.1:p.Val2562LeufsTer15
ENST00000307340.7:c.7684del ENSP00000305941.3:p.Val2562LeufsTer15
NM_206933.2:c.7684del NP_996816.2:p.Val2562LeufsTer15
NM_206933.3:c.7684del NP_996816.2:p.Val2562LeufsTer15
NM_206933.4:c.7684del MANE Select NP_996816.3:p.Val2562LeufsTer15
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