Canonical Allele Identifier: CA2747719144
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728500_215728501insA , CM000663.2:g.215728500_215728501insA GRCh38
NC_000001.10:g.215901842_215901843insA , CM000663.1:g.215901842_215901843insA GRCh37
NC_000001.9:g.213968465_213968466insA NCBI36
NG_009497.1:g.699896_699897insT
NG_009497.2:g.699948_699949insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-117_11712-116insT MANE Select ENSP00000305941.3:n.11712-117_11712-116insT
ENST00000674083.1:c.11712-117_11712-116insT ENSP00000501296.1:n.11712-117_11712-116insT
ENST00000307340.7:c.11712-117_11712-116insT ENSP00000305941.3:n.11712-117_11712-116insT
NM_206933.2:c.11712-117_11712-116insT NP_996816.2:n.11712-117_11712-116insT
NM_206933.3:c.11712-117_11712-116insT NP_996816.2:n.11712-117_11712-116insT
NM_206933.4:c.11712-117_11712-116insT MANE Select NP_996816.3:n.11712-117_11712-116insT
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