Canonical Allele Identifier: CA2580062068
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2017050
ClinVar RCV Id: RCV002835006
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867102_215867104dup , CM000663.2:g.215867102_215867104dup GRCh38
NC_000001.10:g.216040444_216040446dup , CM000663.1:g.216040444_216040446dup GRCh37
NC_000001.9:g.214107067_214107069dup NCBI36
NG_009497.1:g.561293_561295dup
NG_009497.2:g.561345_561347dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8748_8750dup MANE Select ENSP00000305941.3:p.Thr2917_Val2918insThr
ENST00000674083.1:c.8748_8750dup ENSP00000501296.1:p.Thr2917_Val2918insThr
ENST00000307340.7:c.8748_8750dup ENSP00000305941.3:p.Thr2917_Val2918insThr
NM_206933.2:c.8748_8750dup NP_996816.2:p.Thr2917_Val2918insThr
NM_206933.3:c.8748_8750dup NP_996816.2:p.Thr2917_Val2918insThr
NM_206933.4:c.8748_8750dup MANE Select NP_996816.3:p.Thr2917_Val2918insThr
Search 100 bp 5'
Search 100 bp 3'