Canonical Allele Identifier: CA344865440
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2107928
ClinVar RCV Id: RCV003029340

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247149A>G , CM000663.2:g.216247149A>G GRCh38
NC_000001.10:g.216420491A>G , CM000663.1:g.216420491A>G GRCh37
NC_000001.9:g.214487114A>G NCBI36
NG_009497.1:g.181248T>C
NG_009497.2:g.181300T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2245T>C MANE Select ENSP00000305941.3:p.Cys749Arg
ENST00000674083.1:c.2245T>C ENSP00000501296.1:p.Cys749Arg
ENST00000307340.7:c.2245T>C ENSP00000305941.3:p.Cys749Arg
ENST00000366942.3:c.2245T>C ENSP00000355909.3:p.Cys749Arg
NM_007123.5:c.2245T>C NP_009054.5:p.Cys749Arg
NM_206933.2:c.2245T>C NP_996816.2:p.Cys749Arg
NM_206933.3:c.2245T>C NP_996816.2:p.Cys749Arg
NM_007123.6:c.2245T>C NP_009054.6:p.Cys749Arg
NM_206933.4:c.2245T>C MANE Select NP_996816.3:p.Cys749Arg