Canonical Allele Identifier: CA1396774
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1558916
ClinVar RCV Id: RCV002200319
dbSNP Id: rs763518495
ExAC: 1:216592041 A / G
gnomAD v2: 1-216592041-A-G
gnomAD v3: 1-216418699-A-G
gnomAD v4: 1-216418699-A-G
MyVariant Identifiers: chr1:g.216592041A>G (hg19) chr1:g.216418699A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216418699A>G , CM000663.2:g.216418699A>G GRCh38
NC_000001.10:g.216592041A>G , CM000663.1:g.216592041A>G GRCh37
NC_000001.9:g.214658664A>G NCBI36
NG_009497.1:g.9698T>C
NG_009497.2:g.9750T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.486-20T>C MANE Select ENSP00000305941.3:n.486-20T>C
ENST00000674083.1:c.486-20T>C ENSP00000501296.1:n.486-20T>C
ENST00000307340.7:c.486-20T>C ENSP00000305941.3:n.486-20T>C
ENST00000366942.3:c.486-20T>C ENSP00000355909.3:n.486-20T>C
NM_007123.5:c.486-20T>C NP_009054.5:n.486-20T>C
NM_206933.2:c.486-20T>C NP_996816.2:n.486-20T>C
NM_206933.3:c.486-20T>C NP_996816.2:n.486-20T>C
NM_007123.6:c.486-20T>C NP_009054.6:n.486-20T>C
NM_206933.4:c.486-20T>C MANE Select NP_996816.3:n.486-20T>C
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