Canonical Allele Identifier: CA2739275586
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2813170
ClinVar RCV Id: RCV003677866
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215743170_215743174dup , CM000663.2:g.215743170_215743174dup GRCh38
NC_000001.10:g.215916512_215916516dup , CM000663.1:g.215916512_215916516dup GRCh37
NC_000001.9:g.213983135_213983139dup NCBI36
NG_009497.1:g.685223_685227dup
NG_009497.2:g.685275_685279dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11548+3_11548+7dup MANE Select ENSP00000305941.3:n.11548+3_11548+7dup
ENST00000674083.1:c.11548+3_11548+7dup ENSP00000501296.1:n.11548+3_11548+7dup
ENST00000307340.7:c.11548+3_11548+7dup ENSP00000305941.3:n.11548+3_11548+7dup
NM_206933.2:c.11548+3_11548+7dup NP_996816.2:n.11548+3_11548+7dup
NM_206933.3:c.11548+3_11548+7dup NP_996816.2:n.11548+3_11548+7dup
NM_206933.4:c.11548+3_11548+7dup MANE Select NP_996816.3:n.11548+3_11548+7dup
Search 100 bp 5'
Search 100 bp 3'