Canonical Allele Identifier: CA2573051481
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1185657
ClinVar RCV Id: RCV001823266
dbSNP Id: rs2102440764
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867138dup , CM000663.2:g.215867138dup GRCh38
NC_000001.10:g.216040480dup , CM000663.1:g.216040480dup GRCh37
NC_000001.9:g.214107103dup NCBI36
NG_009497.1:g.561259dup
NG_009497.2:g.561311dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8714dup MANE Select ENSP00000305941.3:p.His2905GlnfsTer?
ENST00000674083.1:c.8714dup ENSP00000501296.1:p.His2905GlnfsTer?
ENST00000307340.7:c.8714dup ENSP00000305941.3:p.His2905GlnfsTer?
NM_206933.2:c.8714dup NP_996816.2:p.His2905GlnfsTer?
NM_206933.3:c.8714dup NP_996816.2:p.His2905GlnfsTer?
NM_206933.4:c.8714dup MANE Select NP_996816.3:p.His2905GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'