Canonical Allele Identifier: CA645522759
Gene: USH2A HGNC NCBI

Linked Data

COSMIC: COSM6054548 COSM6054549
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782193_215782194delinsTT , CM000663.2:g.215782193_215782194delinsTT GRCh38
NC_000001.10:g.215955535_215955536delinsTT , CM000663.1:g.215955535_215955536delinsTT GRCh37
NC_000001.9:g.214022158_214022159delinsTT NCBI36
NG_009497.1:g.646203_646204delinsAA
NG_009497.2:g.646255_646256delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10588_10589delinsAA MANE Select ENSP00000305941.3:p.Pro3530Asn
ENST00000674083.1:c.10588_10589delinsAA ENSP00000501296.1:p.Pro3530Asn
ENST00000307340.7:c.10588_10589delinsAA ENSP00000305941.3:p.Pro3530Asn
NM_206933.2:c.10588_10589delinsAA NP_996816.2:p.Pro3530Asn
NM_206933.3:c.10588_10589delinsAA NP_996816.2:p.Pro3530Asn
NM_206933.4:c.10588_10589delinsAA MANE Select NP_996816.3:p.Pro3530Asn
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