Canonical Allele Identifier: CA1396635
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1515288
ClinVar RCV Id: RCV002020985
dbSNP Id: rs776898258
ExAC: 1:216498847 C / T
gnomAD v2: 1-216498847-C-T
MyVariant Identifiers: chr1:g.216498847C>T (hg19) chr1:g.216325505C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216325505C>T , CM000663.2:g.216325505C>T GRCh38
NC_000001.10:g.216498847C>T , CM000663.1:g.216498847C>T GRCh37
NC_000001.9:g.214565470C>T NCBI36
NG_009497.1:g.102892G>A
NG_009497.2:g.102944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.943G>A MANE Select ENSP00000305941.3:p.Ala315Thr
ENST00000674083.1:c.943G>A ENSP00000501296.1:p.Ala315Thr
ENST00000307340.7:c.943G>A ENSP00000305941.3:p.Ala315Thr
ENST00000366942.3:c.943G>A ENSP00000355909.3:p.Ala315Thr
NM_007123.5:c.943G>A NP_009054.5:p.Ala315Thr
NM_206933.2:c.943G>A NP_996816.2:p.Ala315Thr
NM_206933.3:c.943G>A NP_996816.2:p.Ala315Thr
NM_007123.6:c.943G>A NP_009054.6:p.Ala315Thr
NM_206933.4:c.943G>A MANE Select NP_996816.3:p.Ala315Thr
Search 100 bp 5'
Search 100 bp 3'