Canonical Allele Identifier: CA2580062252
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2006295
ClinVar RCV Id: RCV002811673
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675145_215675154del , CM000663.2:g.215675145_215675154del GRCh38
NC_000001.10:g.215848487_215848496del , CM000663.1:g.215848487_215848496del GRCh37
NC_000001.9:g.213915110_213915119del NCBI36
NG_009497.1:g.753245_753254del
NG_009497.2:g.753297_753306del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12759_12768del MANE Select ENSP00000305941.3:p.Trp4253Ter
ENST00000674083.1:c.12759_12768del ENSP00000501296.1:p.Trp4253Ter
ENST00000307340.7:c.12759_12768del ENSP00000305941.3:p.Trp4253Ter
NM_206933.2:c.12759_12768del NP_996816.2:p.Trp4253Ter
NM_206933.3:c.12759_12768del NP_996816.2:p.Trp4253Ter
NM_206933.4:c.12759_12768del MANE Select NP_996816.3:p.Trp4253Ter
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