Canonical Allele Identifier: CA916082143
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 866539
ClinVar RCV Id: RCV001074614 RCV001268584 RCV003455369
dbSNP Id: rs2036054600
gnomAD v4: 1-216246744-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246745dup , CM000663.2:g.216246745dup GRCh38
NC_000001.10:g.216420087dup , CM000663.1:g.216420087dup GRCh37
NC_000001.9:g.214486710dup NCBI36
NG_009497.1:g.181652dup
NG_009497.2:g.181704dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2649dup MANE Select ENSP00000305941.3:p.Pro884AlafsTer9
ENST00000674083.1:c.2649dup ENSP00000501296.1:p.Pro884AlafsTer9
ENST00000307340.7:c.2649dup ENSP00000305941.3:p.Pro884AlafsTer9
ENST00000366942.3:c.2649dup ENSP00000355909.3:p.Pro884AlafsTer9
NM_007123.5:c.2649dup NP_009054.5:p.Pro884AlafsTer9
NM_206933.2:c.2649dup NP_996816.2:p.Pro884AlafsTer9
NM_206933.3:c.2649dup NP_996816.2:p.Pro884AlafsTer9
NM_007123.6:c.2649dup NP_009054.6:p.Pro884AlafsTer9
NM_206933.4:c.2649dup MANE Select NP_996816.3:p.Pro884AlafsTer9
Search 100 bp 5'
Search 100 bp 3'