Canonical Allele Identifier: CA2580062163
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2125102
ClinVar RCV Id: RCV003039948
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216199983_216199984del , CM000663.2:g.216199983_216199984del GRCh38
NC_000001.10:g.216373325_216373326del , CM000663.1:g.216373325_216373326del GRCh37
NC_000001.9:g.214439948_214439949del NCBI36
NG_009497.1:g.228413_228414del
NG_009497.2:g.228465_228466del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.3454_3455del (USH2A) MANE Select ENSP00000305941.3:p.Leu1152AspfsTer?
ENST00000674083.1:c.3454_3455del (USH2A) ENSP00000501296.1:p.Leu1152AspfsTer?
ENST00000307340.7:c.3454_3455del (USH2A) ENSP00000305941.3:p.Leu1152AspfsTer?
ENST00000366942.3:c.3454_3455del (USH2A) ENSP00000355909.3:p.Leu1152AspfsTer?
NM_007123.5:c.3454_3455del (USH2A) NP_009054.5:p.Leu1152AspfsTer?
NM_206933.2:c.3454_3455del (USH2A) NP_996816.2:p.Leu1152AspfsTer?
XR_922595.1:n.355-4047_355-4046del (USH2A-AS1)
XR_922596.1:n.354+4058_354+4059del (USH2A-AS1)
XR_922597.1:n.354+4058_354+4059del (USH2A-AS1)
XR_922598.1:n.485-4047_485-4046del (USH2A-AS1)
XR_922595.3:n.1077-4047_1077-4046del (USH2A-AS1)
XR_922596.3:n.1076+4058_1076+4059del (USH2A-AS1)
NM_206933.3:c.3454_3455del (USH2A) NP_996816.2:p.Leu1152AspfsTer?
NM_007123.6:c.3454_3455del (USH2A) NP_009054.6:p.Leu1152AspfsTer?
NM_206933.4:c.3454_3455del (USH2A) MANE Select NP_996816.3:p.Leu1152AspfsTer?
Search 100 bp 5'
Search 100 bp 3'