Canonical Allele Identifier: CA1220434298
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817010_215817011delinsGA , CM000663.2:g.215817010_215817011delinsGA GRCh38
NC_000001.10:g.215990352_215990353delinsGA , CM000663.1:g.215990352_215990353delinsGA GRCh37
NC_000001.9:g.214056975_214056976delinsGA NCBI36
NG_009497.1:g.611386_611387delinsTC
NG_009497.2:g.611438_611439delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9556_9557delinsTC MANE Select ENSP00000305941.3:p.Ser3186=
ENST00000674083.1:c.9556_9557delinsTC ENSP00000501296.1:p.Ser3186=
ENST00000307340.7:c.9556_9557delinsTC ENSP00000305941.3:p.Ser3186=
NM_206933.2:c.9556_9557delinsTC NP_996816.2:p.Ser3186=
NM_206933.3:c.9556_9557delinsTC NP_996816.2:p.Ser3186=
NM_206933.4:c.9556_9557delinsTC MANE Select NP_996816.3:p.Ser3186=
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