Canonical Allele Identifier: CA273289
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166504
ClinVar RCV Id: RCV000152615 RCV000412947 RCV000505055 RCV000710323 RCV000984232 RCV000984231 RCV001074086 RCV002498718
dbSNP Id: rs727503731
ExAC: 1:216348710 C / CT
gnomAD v2: 1-216348710-C-CT
gnomAD v3: 1-216175368-C-CT
gnomAD v4: 1-216175368-C-CT
MyVariant Identifiers: chr1:g.216348711dupT (hg19) chr1:g.216348710_216348711insT (hg19) chr1:g.216175369dupT (hg38) chr1:g.216175368_216175369insT (hg38)
ERepo: CA273289/MONDO:0019501/005
PubMed: PMID:10729113 PMID:15325563 PMID:22135276 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216175371dup , CM000663.2:g.216175371dup GRCh38
NC_000001.10:g.216348713dup , CM000663.1:g.216348713dup GRCh37
NC_000001.9:g.214415336dup NCBI36
NG_009497.1:g.253028dup
NG_009497.2:g.253080dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4510dup MANE Select ENSP00000305941.3:p.Arg1504LysfsTer26
ENST00000674083.1:c.4510dup ENSP00000501296.1:p.Arg1504LysfsTer26
ENST00000307340.7:c.4510dup ENSP00000305941.3:p.Arg1504LysfsTer26
ENST00000366942.3:c.4510dup ENSP00000355909.3:p.Arg1504LysfsTer26
NM_007123.5:c.4510dup NP_009054.5:p.Arg1504LysfsTer26
NM_206933.2:c.4510dup NP_996816.2:p.Arg1504LysfsTer26
NM_206933.3:c.4510dup NP_996816.2:p.Arg1504LysfsTer26
NM_007123.6:c.4510dup NP_009054.6:p.Arg1504LysfsTer26
NM_206933.4:c.4510dup MANE Select NP_996816.3:p.Arg1504LysfsTer26
Search 100 bp 5'
Search 100 bp 3'