Canonical Allele Identifier: CA1396371
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 497414
dbSNP Id: rs534534437

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216289375G>A , CM000663.2:g.216289375G>A GRCh38
NC_000001.10:g.216462717G>A , CM000663.1:g.216462717G>A GRCh37
NC_000001.9:g.214529340G>A NCBI36
NG_009497.1:g.139022C>T
NG_009497.2:g.139074C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.1876C>T MANE Select ENSP00000305941.3:p.Arg626Ter
ENST00000674083.1:c.1876C>T ENSP00000501296.1:p.Arg626Ter
ENST00000307340.7:c.1876C>T ENSP00000305941.3:p.Arg626Ter
ENST00000366942.3:c.1876C>T ENSP00000355909.3:p.Arg626Ter
NM_007123.5:c.1876C>T NP_009054.5:p.Arg626Ter
NM_206933.2:c.1876C>T NP_996816.2:p.Arg626Ter
NM_206933.3:c.1876C>T NP_996816.2:p.Arg626Ter
NM_007123.6:c.1876C>T NP_009054.6:p.Arg626Ter
NM_206933.4:c.1876C>T MANE Select NP_996816.3:p.Arg626Ter