Canonical Allele Identifier: CA1396576
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1976036
ClinVar RCV Id: RCV002731191
dbSNP Id: rs771663887

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216324297T>C , CM000663.2:g.216324297T>C GRCh38
NC_000001.10:g.216497639T>C , CM000663.1:g.216497639T>C GRCh37
NC_000001.9:g.214564262T>C NCBI36
NG_009497.1:g.104100A>G
NG_009497.2:g.104152A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.1199A>G MANE Select ENSP00000305941.3:p.Gln400Arg
ENST00000674083.1:c.1199A>G ENSP00000501296.1:p.Gln400Arg
ENST00000307340.7:c.1199A>G ENSP00000305941.3:p.Gln400Arg
ENST00000366942.3:c.1199A>G ENSP00000355909.3:p.Gln400Arg
NM_007123.5:c.1199A>G NP_009054.5:p.Gln400Arg
NM_206933.2:c.1199A>G NP_996816.2:p.Gln400Arg
NM_206933.3:c.1199A>G NP_996816.2:p.Gln400Arg
NM_007123.6:c.1199A>G NP_009054.6:p.Gln400Arg
NM_206933.4:c.1199A>G MANE Select NP_996816.3:p.Gln400Arg