Canonical Allele Identifier: CA2573131578
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1388450
ClinVar RCV Id: RCV001886684
dbSNP Id: rs2102762663
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782091_215782094dup , CM000663.2:g.215782091_215782094dup GRCh38
NC_000001.10:g.215955433_215955436dup , CM000663.1:g.215955433_215955436dup GRCh37
NC_000001.9:g.214022056_214022059dup NCBI36
NG_009497.1:g.646305_646308dup
NG_009497.2:g.646357_646360dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10690_10693dup MANE Select ENSP00000305941.3:p.Tyr3565PhefsTer16
ENST00000674083.1:c.10690_10693dup ENSP00000501296.1:p.Tyr3565PhefsTer16
ENST00000307340.7:c.10690_10693dup ENSP00000305941.3:p.Tyr3565PhefsTer16
NM_206933.2:c.10690_10693dup NP_996816.2:p.Tyr3565PhefsTer16
NM_206933.3:c.10690_10693dup NP_996816.2:p.Tyr3565PhefsTer16
NM_206933.4:c.10690_10693dup MANE Select NP_996816.3:p.Tyr3565PhefsTer16
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