Canonical Allele Identifier: CA252228
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2353
ClinVar RCV Id: RCV000002447 RCV000310917 RCV000710335 RCV000793722 RCV000984013 RCV001073308
dbSNP Id: rs111033367
gnomAD v2: 1-216363621-CAG-C
gnomAD v3: 1-216190279-CAG-C
gnomAD v4: 1-216190279-CAG-C
MyVariant Identifiers: chr1:g.216363622_216363623del (hg19) chr1:g.216190280_216190281del (hg38)
PubMed: PMID:9624053 PMID:10729113 PMID:15325563 PMID:18665195 PMID:20440071 PMID:20613545
ERepo: CA252228/MONDO:0019501/005
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216190284_216190285del , CM000663.2:g.216190284_216190285del GRCh38
NC_000001.10:g.216363626_216363627del , CM000663.1:g.216363626_216363627del GRCh37
NC_000001.9:g.214430249_214430250del NCBI36
NG_009497.1:g.238116_238117del
NG_009497.2:g.238168_238169del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.4338_4339del MANE Select ENSP00000305941.3:p.Cys1447GlnfsTer29
ENST00000674083.1:c.4338_4339del ENSP00000501296.1:p.Cys1447GlnfsTer29
ENST00000307340.7:c.4338_4339del ENSP00000305941.3:p.Cys1447GlnfsTer29
ENST00000366942.3:c.4338_4339del ENSP00000355909.3:p.Cys1447GlnfsTer29
NM_007123.5:c.4338_4339del NP_009054.5:p.Cys1447GlnfsTer29
NM_206933.2:c.4338_4339del NP_996816.2:p.Cys1447GlnfsTer29
NM_206933.3:c.4338_4339del NP_996816.2:p.Cys1447GlnfsTer29
NM_007123.6:c.4338_4339del NP_009054.6:p.Cys1447GlnfsTer29
NM_206933.4:c.4338_4339del MANE Select NP_996816.3:p.Cys1447GlnfsTer29
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