Canonical Allele Identifier: CA645515382
Gene: USH2A HGNC NCBI

Linked Data

COSMIC: COSM6124278 COSM6124279 COSM6124280
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246724_216246725delinsTT , CM000663.2:g.216246724_216246725delinsTT GRCh38
NC_000001.10:g.216420066_216420067delinsTT , CM000663.1:g.216420066_216420067delinsTT GRCh37
NC_000001.9:g.214486689_214486690delinsTT NCBI36
NG_009497.1:g.181672_181673delinsAA
NG_009497.2:g.181724_181725delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2669_2670delinsAA MANE Select ENSP00000305941.3:p.Thr890Lys
ENST00000674083.1:c.2669_2670delinsAA ENSP00000501296.1:p.Thr890Lys
ENST00000307340.7:c.2669_2670delinsAA ENSP00000305941.3:p.Thr890Lys
ENST00000366942.3:c.2669_2670delinsAA ENSP00000355909.3:p.Thr890Lys
NM_007123.5:c.2669_2670delinsAA NP_009054.5:p.Thr890Lys
NM_206933.2:c.2669_2670delinsAA NP_996816.2:p.Thr890Lys
NM_206933.3:c.2669_2670delinsAA NP_996816.2:p.Thr890Lys
NM_007123.6:c.2669_2670delinsAA NP_009054.6:p.Thr890Lys
NM_206933.4:c.2669_2670delinsAA MANE Select NP_996816.3:p.Thr890Lys
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