Canonical Allele Identifier: CA252235
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2357
dbSNP Id: rs111033364

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728232C>T , CM000663.2:g.215728232C>T GRCh38
NC_000001.10:g.215901574C>T , CM000663.1:g.215901574C>T GRCh37
NC_000001.9:g.213968197C>T NCBI36
NG_009497.1:g.700165G>A
NG_009497.2:g.700217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11864G>A MANE Select ENSP00000305941.3:p.Trp3955Ter
ENST00000674083.1:c.11864G>A ENSP00000501296.1:p.Trp3955Ter
ENST00000307340.7:c.11864G>A ENSP00000305941.3:p.Trp3955Ter
NM_206933.2:c.11864G>A NP_996816.2:p.Trp3955Ter
NM_206933.3:c.11864G>A NP_996816.2:p.Trp3955Ter
NM_206933.4:c.11864G>A MANE Select NP_996816.3:p.Trp3955Ter