Canonical Allele Identifier: CA1220619212
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247001_216247003delinsTCA , CM000663.2:g.216247001_216247003delinsTCA GRCh38
NC_000001.10:g.216420343_216420345delinsTCA , CM000663.1:g.216420343_216420345delinsTCA GRCh37
NC_000001.9:g.214486966_214486968delinsTCA NCBI36
NG_009497.1:g.181394_181396delinsTGA
NG_009497.2:g.181446_181448delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2391_2393delinsTGA MANE Select ENSP00000305941.3:p.Cys797=
ENST00000674083.1:c.2391_2393delinsTGA ENSP00000501296.1:p.Cys797=
ENST00000307340.7:c.2391_2393delinsTGA ENSP00000305941.3:p.Cys797=
ENST00000366942.3:c.2391_2393delinsTGA ENSP00000355909.3:p.Cys797=
NM_007123.5:c.2391_2393delinsTGA NP_009054.5:p.Cys797=
NM_206933.2:c.2391_2393delinsTGA NP_996816.2:p.Cys797=
NM_206933.3:c.2391_2393delinsTGA NP_996816.2:p.Cys797=
NM_007123.6:c.2391_2393delinsTGA NP_009054.6:p.Cys797=
NM_206933.4:c.2391_2393delinsTGA MANE Select NP_996816.3:p.Cys797=
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