Canonical Allele Identifier: CA2580062135
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1724619
ClinVar RCV Id: RCV002309887
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246977_216246978insA , CM000663.2:g.216246977_216246978insA GRCh38
NC_000001.10:g.216420319_216420320insA , CM000663.1:g.216420319_216420320insA GRCh37
NC_000001.9:g.214486942_214486943insA NCBI36
NG_009497.1:g.181419_181420insT
NG_009497.2:g.181471_181472insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2416_2417insT MANE Select ENSP00000305941.3:p.Thr806IlefsTer4
ENST00000674083.1:c.2416_2417insT ENSP00000501296.1:p.Thr806IlefsTer4
ENST00000307340.7:c.2416_2417insT ENSP00000305941.3:p.Thr806IlefsTer4
ENST00000366942.3:c.2416_2417insT ENSP00000355909.3:p.Thr806IlefsTer4
NM_007123.5:c.2416_2417insT NP_009054.5:p.Thr806IlefsTer4
NM_206933.2:c.2416_2417insT NP_996816.2:p.Thr806IlefsTer4
NM_206933.3:c.2416_2417insT NP_996816.2:p.Thr806IlefsTer4
NM_007123.6:c.2416_2417insT NP_009054.6:p.Thr806IlefsTer4
NM_206933.4:c.2416_2417insT MANE Select NP_996816.3:p.Thr806IlefsTer4
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