Canonical Allele Identifier: CA262135
Gene: USH2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48634
dbSNP Id: rs111033263

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799066A>G , CM000663.2:g.215799066A>G GRCh38
NC_000001.10:g.215972408A>G , CM000663.1:g.215972408A>G GRCh37
NC_000001.9:g.214039031A>G NCBI36
NG_009497.1:g.629331T>C

Transcript Alleles

HGVS Amino-acid change
NM_206933.2:c.9799T>C VV NP_996816.2:p.Cys3267Arg
NM_206933.3:c.9799T>C VV NP_996816.2:p.Cys3267Arg
ENST00000307340.7:c.9799T>C ENSP00000305941.3:p.Cys3267Arg