Canonical Allele Identifier: CA179584
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166517
dbSNP Id: rs148594393

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246884C>T , CM000663.2:g.216246884C>T GRCh38
NC_000001.10:g.216420226C>T , CM000663.1:g.216420226C>T GRCh37
NC_000001.9:g.214486849C>T NCBI36
NG_009497.1:g.181513G>A
NG_009497.2:g.181565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2510G>A MANE Select ENSP00000305941.3:p.Arg837Gln
ENST00000674083.1:c.2510G>A ENSP00000501296.1:p.Arg837Gln
ENST00000307340.7:c.2510G>A ENSP00000305941.3:p.Arg837Gln
ENST00000366942.3:c.2510G>A ENSP00000355909.3:p.Arg837Gln
NM_007123.5:c.2510G>A NP_009054.5:p.Arg837Gln
NM_206933.2:c.2510G>A NP_996816.2:p.Arg837Gln
NM_206933.3:c.2510G>A NP_996816.2:p.Arg837Gln
NM_007123.6:c.2510G>A NP_009054.6:p.Arg837Gln
NM_206933.4:c.2510G>A MANE Select NP_996816.3:p.Arg837Gln