Canonical Allele Identifier: CA273290
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166516
dbSNP Id: rs727503736

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246853G>T , CM000663.2:g.216246853G>T GRCh38
NC_000001.10:g.216420195G>T , CM000663.1:g.216420195G>T GRCh37
NC_000001.9:g.214486818G>T NCBI36
NG_009497.1:g.181544C>A
NG_009497.2:g.181596C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2541C>A MANE Select ENSP00000305941.3:p.Cys847Ter
ENST00000674083.1:c.2541C>A ENSP00000501296.1:p.Cys847Ter
ENST00000307340.7:c.2541C>A ENSP00000305941.3:p.Cys847Ter
ENST00000366942.3:c.2541C>A ENSP00000355909.3:p.Cys847Ter
NM_007123.5:c.2541C>A NP_009054.5:p.Cys847Ter
NM_206933.2:c.2541C>A NP_996816.2:p.Cys847Ter
NM_206933.3:c.2541C>A NP_996816.2:p.Cys847Ter
NM_007123.6:c.2541C>A NP_009054.6:p.Cys847Ter
NM_206933.4:c.2541C>A MANE Select NP_996816.3:p.Cys847Ter