Canonical Allele Identifier: CA143472
Gene: USH2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48509
dbSNP Id: rs111033524

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216198494C>A , CM000663.2:g.216198494C>A GRCh38
NC_000001.9:g.214438459C>A NCBI36
NC_000001.10:g.216371836C>A , CM000663.1:g.216371836C>A GRCh37
NG_009497.1:g.229903G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.7:c.3902G>T ENSP00000305941.3:p.Gly1301Val
ENST00000366942.3:c.3902G>T ENSP00000355909.3:p.Gly1301Val
NM_007123.5:c.3902G>T NP_009054.5:p.Gly1301Val
NM_206933.2:c.3902G>T NP_996816.2:p.Gly1301Val
XR_922595.1:n.354+2569C>A
XR_922596.1:n.354+2569C>A
XR_922597.1:n.354+2569C>A
XR_922598.1:n.484+2569C>A