Canonical Allele Identifier: CA262133
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48628
dbSNP Id: rs73090721

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817108G>T , CM000663.2:g.215817108G>T GRCh38
NC_000001.10:g.215990450G>T , CM000663.1:g.215990450G>T GRCh37
NC_000001.9:g.214057073G>T NCBI36
NG_009497.1:g.611289C>A
NG_009497.2:g.611341C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9459C>A MANE Select ENSP00000305941.3:p.Cys3153Ter
ENST00000674083.1:c.9459C>A ENSP00000501296.1:p.Cys3153Ter
ENST00000307340.7:c.9459C>A ENSP00000305941.3:p.Cys3153Ter
NM_206933.2:c.9459C>A NP_996816.2:p.Cys3153Ter
NM_206933.3:c.9459C>A NP_996816.2:p.Cys3153Ter
NM_206933.4:c.9459C>A MANE Select NP_996816.3:p.Cys3153Ter