Canonical Allele Identifier: CA916082119
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 866259
ClinVar RCV Id: RCV001074113
dbSNP Id: rs1659887829
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728201del , CM000663.2:g.215728201del GRCh38
NC_000001.10:g.215901543del , CM000663.1:g.215901543del GRCh37
NC_000001.9:g.213968166del NCBI36
NG_009497.1:g.700196del
NG_009497.2:g.700248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11895del MANE Select ENSP00000305941.3:p.Gln3966LysfsTer18
ENST00000674083.1:c.11895del ENSP00000501296.1:p.Gln3966LysfsTer18
ENST00000307340.7:c.11895del ENSP00000305941.3:p.Gln3966LysfsTer18
NM_206933.2:c.11895del NP_996816.2:p.Gln3966LysfsTer18
NM_206933.3:c.11895del NP_996816.2:p.Gln3966LysfsTer18
NM_206933.4:c.11895del MANE Select NP_996816.3:p.Gln3966LysfsTer18
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