Canonical Allele Identifier: CA1220619270
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247146_216247161delinsTACACTGGCAGGGCTC , CM000663.2:g.216247146_216247161delinsTACACTGGCAGGGCTC GRCh38
NC_000001.10:g.216420488_216420503delinsTACACTGGCAGGGCTC , CM000663.1:g.216420488_216420503delinsTACACTGGCAGGGCTC GRCh37
NC_000001.9:g.214487111_214487126delinsTACACTGGCAGGGCTC NCBI36
NG_009497.1:g.181236_181251delinsGAGCCCTGCCAGTGTA
NG_009497.2:g.181288_181303delinsGAGCCCTGCCAGTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2233_2248delinsGAGCCCTGCCAGTGTA MANE Select ENSP00000305941.3:p.Glu745=
ENST00000674083.1:c.2233_2248delinsGAGCCCTGCCAGTGTA ENSP00000501296.1:p.Glu745=
ENST00000307340.7:c.2233_2248delinsGAGCCCTGCCAGTGTA ENSP00000305941.3:p.Glu745=
ENST00000366942.3:c.2233_2248delinsGAGCCCTGCCAGTGTA ENSP00000355909.3:p.Glu745=
NM_007123.5:c.2233_2248delinsGAGCCCTGCCAGTGTA NP_009054.5:p.Glu745=
NM_206933.2:c.2233_2248delinsGAGCCCTGCCAGTGTA NP_996816.2:p.Glu745=
NM_206933.3:c.2233_2248delinsGAGCCCTGCCAGTGTA NP_996816.2:p.Glu745=
NM_007123.6:c.2233_2248delinsGAGCCCTGCCAGTGTA NP_009054.6:p.Glu745=
NM_206933.4:c.2233_2248delinsGAGCCCTGCCAGTGTA MANE Select NP_996816.3:p.Glu745=
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