Canonical Allele Identifier: CA10588281
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265288
dbSNP Id: rs886039450

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216207402_216207403del , CM000663.2:g.216207402_216207403del GRCh38
NC_000001.10:g.216380744_216380745del , CM000663.1:g.216380744_216380745del GRCh37
NC_000001.9:g.214447367_214447368del NCBI36
NG_009497.1:g.220995_220996del
NG_009497.2:g.221047_221048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.3187_3188del (USH2A) MANE Select ENSP00000305941.3:p.Gln1063SerfsTer15
ENST00000674083.1:c.3187_3188del (USH2A) ENSP00000501296.1:p.Gln1063SerfsTer15
ENST00000307340.7:c.3187_3188del (USH2A) ENSP00000305941.3:p.Gln1063SerfsTer15
ENST00000366942.3:c.3187_3188del (USH2A) ENSP00000355909.3:p.Gln1063SerfsTer15
NM_007123.5:c.3187_3188del (USH2A) NP_009054.5:p.Gln1063SerfsTer15
NM_206933.2:c.3187_3188del (USH2A) NP_996816.2:p.Gln1063SerfsTer15
XR_922596.1:n.354+11477_354+11478del (USH2A-AS1)
XR_922597.1:n.354+11477_354+11478del (USH2A-AS1)
XR_922596.3:n.1076+11477_1076+11478del (USH2A-AS1)
NM_206933.3:c.3187_3188del (USH2A) NP_996816.2:p.Gln1063SerfsTer15
NM_007123.6:c.3187_3188del (USH2A) NP_009054.6:p.Gln1063SerfsTer15
NM_206933.4:c.3187_3188del (USH2A) MANE Select NP_996816.3:p.Gln1063SerfsTer15