Canonical Allele Identifier: CA2573131594
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1351428
ClinVar RCV Id: RCV002044721
dbSNP Id: rs2102796387
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817079del , CM000663.2:g.215817079del GRCh38
NC_000001.10:g.215990421del , CM000663.1:g.215990421del GRCh37
NC_000001.9:g.214057044del NCBI36
NG_009497.1:g.611318del
NG_009497.2:g.611370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9488del MANE Select ENSP00000305941.3:p.Gln3163ArgfsTer9
ENST00000674083.1:c.9488del ENSP00000501296.1:p.Gln3163ArgfsTer9
ENST00000307340.7:c.9488del ENSP00000305941.3:p.Gln3163ArgfsTer9
NM_206933.2:c.9488del NP_996816.2:p.Gln3163ArgfsTer9
NM_206933.3:c.9488del NP_996816.2:p.Gln3163ArgfsTer9
NM_206933.4:c.9488del MANE Select NP_996816.3:p.Gln3163ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'