Canonical Allele Identifier: CA143442
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48488
dbSNP Id: rs111033481

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246848C>T , CM000663.2:g.216246848C>T GRCh38
NC_000001.10:g.216420190C>T , CM000663.1:g.216420190C>T GRCh37
NC_000001.9:g.214486813C>T NCBI36
NG_009497.1:g.181549G>A
NG_009497.2:g.181601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2546G>A MANE Select ENSP00000305941.3:p.Cys849Tyr
ENST00000674083.1:c.2546G>A ENSP00000501296.1:p.Cys849Tyr
ENST00000307340.7:c.2546G>A ENSP00000305941.3:p.Cys849Tyr
ENST00000366942.3:c.2546G>A ENSP00000355909.3:p.Cys849Tyr
NM_007123.5:c.2546G>A NP_009054.5:p.Cys849Tyr
NM_206933.2:c.2546G>A NP_996816.2:p.Cys849Tyr
NM_206933.3:c.2546G>A NP_996816.2:p.Cys849Tyr
NM_007123.6:c.2546G>A NP_009054.6:p.Cys849Tyr
NM_206933.4:c.2546G>A MANE Select NP_996816.3:p.Cys849Tyr