Canonical Allele Identifier: CA2573132004
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486285
ClinVar RCV Id: RCV002030619
dbSNP Id: rs2102463667
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216198306_216198314del , CM000663.2:g.216198306_216198314del GRCh38
NC_000001.10:g.216371648_216371656del , CM000663.1:g.216371648_216371656del GRCh37
NC_000001.9:g.214438271_214438279del NCBI36
NG_009497.1:g.230083_230091del
NG_009497.2:g.230135_230143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4081+1_4081+9del (USH2A) MANE Select ENSP00000305941.3:n.4081+1_4081+9del
ENST00000674083.1:c.4081+1_4081+9del (USH2A) ENSP00000501296.1:n.4081+1_4081+9del
ENST00000307340.7:c.4081+1_4081+9del (USH2A) ENSP00000305941.3:n.4081+1_4081+9del
ENST00000366942.3:c.4081+1_4081+9del (USH2A) ENSP00000355909.3:n.4081+1_4081+9del
NM_007123.5:c.4081+1_4081+9del (USH2A) NP_009054.5:n.4081+1_4081+9del
NM_206933.2:c.4081+1_4081+9del (USH2A) NP_996816.2:n.4081+1_4081+9del
XR_922595.1:n.354+2381_354+2389del (USH2A-AS1)
XR_922596.1:n.354+2381_354+2389del (USH2A-AS1)
XR_922597.1:n.354+2381_354+2389del (USH2A-AS1)
XR_922598.1:n.484+2381_484+2389del (USH2A-AS1)
XR_922595.3:n.1076+2381_1076+2389del (USH2A-AS1)
XR_922596.3:n.1076+2381_1076+2389del (USH2A-AS1)
NM_206933.3:c.4081+1_4081+9del (USH2A) NP_996816.2:n.4081+1_4081+9del
NM_007123.6:c.4081+1_4081+9del (USH2A) NP_009054.6:n.4081+1_4081+9del
NM_206933.4:c.4081+1_4081+9del (USH2A) MANE Select NP_996816.3:n.4081+1_4081+9del
Search 100 bp 5'
Search 100 bp 3'