Canonical Allele Identifier: CA1394821
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 228223
dbSNP Id: rs760977747

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215900175A>T , CM000663.2:g.215900175A>T GRCh38
NC_000001.10:g.216073517A>T , CM000663.1:g.216073517A>T GRCh37
NC_000001.9:g.214140140A>T NCBI36
NG_009497.1:g.528222T>A
NG_009497.2:g.528274T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7494T>A MANE Select ENSP00000305941.3:p.Ser2498Arg
ENST00000674083.1:c.7494T>A ENSP00000501296.1:p.Ser2498Arg
ENST00000307340.7:c.7494T>A ENSP00000305941.3:p.Ser2498Arg
NM_206933.2:c.7494T>A NP_996816.2:p.Ser2498Arg
NM_206933.3:c.7494T>A NP_996816.2:p.Ser2498Arg
NM_206933.4:c.7494T>A MANE Select NP_996816.3:p.Ser2498Arg