Canonical Allele Identifier: CA344867052
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2034902578

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216198413C>A , CM000663.2:g.216198413C>A GRCh38
NC_000001.10:g.216371755C>A , CM000663.1:g.216371755C>A GRCh37
NC_000001.9:g.214438378C>A NCBI36
NG_009497.1:g.229984G>T
NG_009497.2:g.230036G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.3983G>T (USH2A) MANE Select ENSP00000305941.3:p.Gly1328Val
ENST00000674083.1:c.3983G>T (USH2A) ENSP00000501296.1:p.Gly1328Val
ENST00000307340.7:c.3983G>T (USH2A) ENSP00000305941.3:p.Gly1328Val
ENST00000366942.3:c.3983G>T (USH2A) ENSP00000355909.3:p.Gly1328Val
NM_007123.5:c.3983G>T (USH2A) NP_009054.5:p.Gly1328Val
NM_206933.2:c.3983G>T (USH2A) NP_996816.2:p.Gly1328Val
XR_922595.1:n.354+2488C>A (USH2A-AS1)
XR_922596.1:n.354+2488C>A (USH2A-AS1)
XR_922597.1:n.354+2488C>A (USH2A-AS1)
XR_922598.1:n.484+2488C>A (USH2A-AS1)
XR_922595.3:n.1076+2488C>A (USH2A-AS1)
XR_922596.3:n.1076+2488C>A (USH2A-AS1)
NM_206933.3:c.3983G>T (USH2A) NP_996816.2:p.Gly1328Val
NM_007123.6:c.3983G>T (USH2A) NP_009054.6:p.Gly1328Val
NM_206933.4:c.3983G>T (USH2A) MANE Select NP_996816.3:p.Gly1328Val