Canonical Allele Identifier: CA1394190
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2796780
ClinVar RCV Id: RCV003670808
dbSNP Id: rs768097820
ExAC: 1:215972327 A / T
gnomAD v2: 1-215972327-A-T
gnomAD v4: 1-215798985-A-T
MyVariant Identifiers: chr1:g.215972327A>T (hg19) chr1:g.215798985A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798985A>T , CM000663.2:g.215798985A>T GRCh38
NC_000001.10:g.215972327A>T , CM000663.1:g.215972327A>T GRCh37
NC_000001.9:g.214038950A>T NCBI36
NG_009497.1:g.629412T>A
NG_009497.2:g.629464T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9880T>A MANE Select ENSP00000305941.3:p.Cys3294Ser
ENST00000674083.1:c.9880T>A ENSP00000501296.1:p.Cys3294Ser
ENST00000307340.7:c.9880T>A ENSP00000305941.3:p.Cys3294Ser
NM_206933.2:c.9880T>A NP_996816.2:p.Cys3294Ser
NM_206933.3:c.9880T>A NP_996816.2:p.Cys3294Ser
NM_206933.4:c.9880T>A MANE Select NP_996816.3:p.Cys3294Ser
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