Canonical Allele Identifier: CA916082144
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 866130
ClinVar RCV Id: RCV001073901
dbSNP Id: rs2036066604
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247101del , CM000663.2:g.216247101del GRCh38
NC_000001.10:g.216420443del , CM000663.1:g.216420443del GRCh37
NC_000001.9:g.214487066del NCBI36
NG_009497.1:g.181296del
NG_009497.2:g.181348del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2293del MANE Select ENSP00000305941.3:p.Gln765SerfsTer23
ENST00000674083.1:c.2293del ENSP00000501296.1:p.Gln765SerfsTer23
ENST00000307340.7:c.2293del ENSP00000305941.3:p.Gln765SerfsTer23
ENST00000366942.3:c.2293del ENSP00000355909.3:p.Gln765SerfsTer23
NM_007123.5:c.2293del NP_009054.5:p.Gln765SerfsTer23
NM_206933.2:c.2293del NP_996816.2:p.Gln765SerfsTer23
NM_206933.3:c.2293del NP_996816.2:p.Gln765SerfsTer23
NM_007123.6:c.2293del NP_009054.6:p.Gln765SerfsTer23
NM_206933.4:c.2293del MANE Select NP_996816.3:p.Gln765SerfsTer23
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