Canonical Allele Identifier: CA2573051480
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1342912
ClinVar RCV Id: RCV001842269 RCV003574892
dbSNP Id: rs2102796345
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817047_215817048delinsTT , CM000663.2:g.215817047_215817048delinsTT GRCh38
NC_000001.10:g.215990389_215990390delinsTT , CM000663.1:g.215990389_215990390delinsTT GRCh37
NC_000001.9:g.214057012_214057013delinsTT NCBI36
NG_009497.1:g.611349_611350delinsAA
NG_009497.2:g.611401_611402delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9519_9520delinsAA MANE Select ENSP00000305941.3:p.Cys3173Ter
ENST00000674083.1:c.9519_9520delinsAA ENSP00000501296.1:p.Cys3173Ter
ENST00000307340.7:c.9519_9520delinsAA ENSP00000305941.3:p.Cys3173Ter
NM_206933.2:c.9519_9520delinsAA NP_996816.2:p.Cys3173Ter
NM_206933.3:c.9519_9520delinsAA NP_996816.2:p.Cys3173Ter
NM_206933.4:c.9519_9520delinsAA MANE Select NP_996816.3:p.Cys3173Ter
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