Canonical Allele Identifier: CA2580611547
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1299947
ClinVar RCV Id: RCV001730392 RCV003474015
dbSNP Id: rs2102440742
gnomAD v4: 1-215867127-CCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867131_215867132del , CM000663.2:g.215867131_215867132del GRCh38
NC_000001.10:g.216040473_216040474del , CM000663.1:g.216040473_216040474del GRCh37
NC_000001.9:g.214107096_214107097del NCBI36
NG_009497.1:g.561268_561269del
NG_009497.2:g.561320_561321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8723_8724del MANE Select ENSP00000305941.3:p.Val2908GlyfsTer29
ENST00000674083.1:c.8723_8724del ENSP00000501296.1:p.Val2908GlyfsTer29
ENST00000307340.7:c.8723_8724del ENSP00000305941.3:p.Val2908GlyfsTer29
NM_206933.2:c.8723_8724del NP_996816.2:p.Val2908GlyfsTer29
NM_206933.3:c.8723_8724del NP_996816.2:p.Val2908GlyfsTer29
NM_206933.4:c.8723_8724del MANE Select NP_996816.3:p.Val2908GlyfsTer29
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