Canonical Allele Identifier: CA423313225
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1089939
ClinVar RCV Id: RCV001408906
dbSNP Id: rs1661659716
gnomAD v3: 1-215782090-T-A
gnomAD v4: 1-215782090-T-A
MyVariant Identifiers: chr1:g.215955432T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782090T>A , CM000663.2:g.215782090T>A GRCh38
NC_000001.10:g.215955432T>A , CM000663.1:g.215955432T>A GRCh37
NC_000001.9:g.214022055T>A NCBI36
NG_009497.1:g.646307A>T
NG_009497.2:g.646359A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10692A>T MANE Select ENSP00000305941.3:p.Ser3564=
ENST00000674083.1:c.10692A>T ENSP00000501296.1:p.Ser3564=
ENST00000307340.7:c.10692A>T ENSP00000305941.3:p.Ser3564=
NM_206933.2:c.10692A>T NP_996816.2:p.Ser3564=
NM_206933.3:c.10692A>T NP_996816.2:p.Ser3564=
NM_206933.4:c.10692A>T MANE Select NP_996816.3:p.Ser3564=
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