Canonical Allele Identifier: CA185267
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 179851
dbSNP Id: rs727505170

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680168C>T , CM000663.2:g.215680168C>T GRCh38
NC_000001.10:g.215853510C>T , CM000663.1:g.215853510C>T GRCh37
NC_000001.9:g.213920133C>T NCBI36
NG_009497.1:g.748229G>A
NG_009497.2:g.748281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12275G>A MANE Select ENSP00000305941.3:p.Arg4092Lys
ENST00000674083.1:c.12275G>A ENSP00000501296.1:p.Arg4092Lys
ENST00000307340.7:c.12275G>A ENSP00000305941.3:p.Arg4092Lys
NM_206933.2:c.12275G>A NP_996816.2:p.Arg4092Lys
NM_206933.3:c.12275G>A NP_996816.2:p.Arg4092Lys
NM_206933.4:c.12275G>A MANE Select NP_996816.3:p.Arg4092Lys