Canonical Allele Identifier: CA2499214522

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 1070543
• ClinVar RCV Id: RCV001382733
• dbSNP Id: rs2102464224
• gnomAD v4: 1-216198484-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216198485del , CM000663.2:g.216198485del	GRCh38
NC_000001.10:g.216371827del , CM000663.1:g.216371827del	GRCh37
NC_000001.9:g.214438450del	NCBI36
NG_009497.1:g.229912del
NG_009497.2:g.229964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3911del (USH2A) MANE Select	ENSP00000305941.3:p.Ser1304IlefsTer6
ENST00000674083.1:c.3911del (USH2A)	ENSP00000501296.1:p.Ser1304IlefsTer6
ENST00000307340.7:c.3911del (USH2A)	ENSP00000305941.3:p.Ser1304IlefsTer6
ENST00000366942.3:c.3911del (USH2A)	ENSP00000355909.3:p.Ser1304IlefsTer6
NM_007123.5:c.3911del (USH2A)	NP_009054.5:p.Ser1304IlefsTer6
NM_206933.2:c.3911del (USH2A)	NP_996816.2:p.Ser1304IlefsTer6
XR_922595.1:n.354+2560del (USH2A-AS1)
XR_922596.1:n.354+2560del (USH2A-AS1)
XR_922597.1:n.354+2560del (USH2A-AS1)
XR_922598.1:n.484+2560del (USH2A-AS1)
XR_922595.3:n.1076+2560del (USH2A-AS1)
XR_922596.3:n.1076+2560del (USH2A-AS1)
NM_206933.3:c.3911del (USH2A)	NP_996816.2:p.Ser1304IlefsTer6
NM_007123.6:c.3911del (USH2A)	NP_009054.6:p.Ser1304IlefsTer6
NM_206933.4:c.3911del (USH2A) MANE Select	NP_996816.3:p.Ser1304IlefsTer6