Canonical Allele Identifier: CA2586968120
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671152del , CM000663.2:g.215671152del GRCh38
NC_000001.10:g.215844494del , CM000663.1:g.215844494del GRCh37
NC_000001.9:g.213911117del NCBI36
NG_009497.1:g.757246del
NG_009497.2:g.757298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13954del MANE Select ENSP00000305941.3:p.Thr4652LeufsTer26
ENST00000674083.1:c.13954del ENSP00000501296.1:p.Thr4652LeufsTer26
ENST00000307340.7:c.13954del ENSP00000305941.3:p.Thr4652LeufsTer26
NM_206933.2:c.13954del NP_996816.2:p.Thr4652LeufsTer26
NM_206933.3:c.13954del NP_996816.2:p.Thr4652LeufsTer26
NM_206933.4:c.13954del MANE Select NP_996816.3:p.Thr4652LeufsTer26
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