Canonical Allele Identifier: CA1393686
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2903546
ClinVar RCV Id: RCV003726775
dbSNP Id: rs545402848
ExAC: 1:215916503 T / G
gnomAD v2: 1-215916503-T-G
gnomAD v3: 1-215743161-T-G
gnomAD v4: 1-215743161-T-G
MyVariant Identifiers: chr1:g.215916503T>G (hg19) chr1:g.215743161T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215743161T>G , CM000663.2:g.215743161T>G GRCh38
NC_000001.10:g.215916503T>G , CM000663.1:g.215916503T>G GRCh37
NC_000001.9:g.213983126T>G NCBI36
NG_009497.1:g.685236A>C
NG_009497.2:g.685288A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11548+16A>C MANE Select ENSP00000305941.3:n.11548+16A>C
ENST00000674083.1:c.11548+16A>C ENSP00000501296.1:n.11548+16A>C
ENST00000307340.7:c.11548+16A>C ENSP00000305941.3:n.11548+16A>C
NM_206933.2:c.11548+16A>C NP_996816.2:n.11548+16A>C
NM_206933.3:c.11548+16A>C NP_996816.2:n.11548+16A>C
NM_206933.4:c.11548+16A>C MANE Select NP_996816.3:n.11548+16A>C
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