Canonical Allele Identifier: CA1220425899
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2030569
ClinVar RCV Id: RCV002871846
dbSNP Id: rs140287624
gnomAD v4: 1-215798900-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798900C>T , CM000663.2:g.215798900C>T GRCh38
NC_000001.10:g.215972242C>T , CM000663.1:g.215972242C>T GRCh37
NC_000001.9:g.214038865C>T NCBI36
NG_009497.1:g.629497G>A
NG_009497.2:g.629549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9958+7G>A MANE Select ENSP00000305941.3:n.9958+7G>A
ENST00000674083.1:c.9958+7G>A ENSP00000501296.1:n.9958+7G>A
ENST00000307340.7:c.9958+7G>A ENSP00000305941.3:n.9958+7G>A
NM_206933.2:c.9958+7G>A NP_996816.2:n.9958+7G>A
NM_206933.3:c.9958+7G>A NP_996816.2:n.9958+7G>A
NM_206933.4:c.9958+7G>A MANE Select NP_996816.3:n.9958+7G>A
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