Canonical Allele Identifier: CA1139656542
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 813242
ClinVar RCV Id: RCV001199786
dbSNP Id: rs1657799383
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671080_215671094del , CM000663.2:g.215671080_215671094del GRCh38
NC_000001.10:g.215844422_215844436del , CM000663.1:g.215844422_215844436del GRCh37
NC_000001.9:g.213911045_213911059del NCBI36
NG_009497.1:g.757303_757317del
NG_009497.2:g.757355_757369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14011_14025del MANE Select ENSP00000305941.3:p.Glu4671_Arg4675del
ENST00000674083.1:c.14011_14025del ENSP00000501296.1:p.Glu4671_Arg4675del
ENST00000307340.7:c.14011_14025del ENSP00000305941.3:p.Glu4671_Arg4675del
NM_206933.2:c.14011_14025del NP_996816.2:p.Glu4671_Arg4675del
NM_206933.3:c.14011_14025del NP_996816.2:p.Glu4671_Arg4675del
NM_206933.4:c.14011_14025del MANE Select NP_996816.3:p.Glu4671_Arg4675del
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