Canonical Allele Identifier: CA1220619271
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs2036067780
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247150_216247164del , CM000663.2:g.216247150_216247164del GRCh38
NC_000001.10:g.216420492_216420506del , CM000663.1:g.216420492_216420506del GRCh37
NC_000001.9:g.214487115_214487129del NCBI36
NG_009497.1:g.181236_181250del
NG_009497.2:g.181288_181302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2233_2247del MANE Select ENSP00000305941.3:p.Glu745_Cys749del
ENST00000674083.1:c.2233_2247del ENSP00000501296.1:p.Glu745_Cys749del
ENST00000307340.7:c.2233_2247del ENSP00000305941.3:p.Glu745_Cys749del
ENST00000366942.3:c.2233_2247del ENSP00000355909.3:p.Glu745_Cys749del
NM_007123.5:c.2233_2247del NP_009054.5:p.Glu745_Cys749del
NM_206933.2:c.2233_2247del NP_996816.2:p.Glu745_Cys749del
NM_206933.3:c.2233_2247del NP_996816.2:p.Glu745_Cys749del
NM_007123.6:c.2233_2247del NP_009054.6:p.Glu745_Cys749del
NM_206933.4:c.2233_2247del MANE Select NP_996816.3:p.Glu745_Cys749del
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