Canonical Allele Identifier: CA2573132005

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 1405431
• ClinVar RCV Id: RCV001903801
• dbSNP Id: rs2102463707

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216198318_216198322del , CM000663.2:g.216198318_216198322del	GRCh38
NC_000001.10:g.216371660_216371664del , CM000663.1:g.216371660_216371664del	GRCh37
NC_000001.9:g.214438283_214438287del	NCBI36
NG_009497.1:g.230075_230079del
NG_009497.2:g.230127_230131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4074_4078del (USH2A) MANE Select	ENSP00000305941.3:p.Glu1359SerfsTer28
ENST00000674083.1:c.4074_4078del (USH2A)	ENSP00000501296.1:p.Glu1359SerfsTer28
ENST00000307340.7:c.4074_4078del (USH2A)	ENSP00000305941.3:p.Glu1359SerfsTer28
ENST00000366942.3:c.4074_4078del (USH2A)	ENSP00000355909.3:p.Glu1359SerfsTer28
NM_007123.5:c.4074_4078del (USH2A)	NP_009054.5:p.Glu1359SerfsTer28
NM_206933.2:c.4074_4078del (USH2A)	NP_996816.2:p.Glu1359SerfsTer28
XR_922595.1:n.354+2393_354+2397del (USH2A-AS1)
XR_922596.1:n.354+2393_354+2397del (USH2A-AS1)
XR_922597.1:n.354+2393_354+2397del (USH2A-AS1)
XR_922598.1:n.484+2393_484+2397del (USH2A-AS1)
XR_922595.3:n.1076+2393_1076+2397del (USH2A-AS1)
XR_922596.3:n.1076+2393_1076+2397del (USH2A-AS1)
NM_206933.3:c.4074_4078del (USH2A)	NP_996816.2:p.Glu1359SerfsTer28
NM_007123.6:c.4074_4078del (USH2A)	NP_009054.6:p.Glu1359SerfsTer28
NM_206933.4:c.4074_4078del (USH2A) MANE Select	NP_996816.3:p.Glu1359SerfsTer28