Canonical Allele Identifier: CA1396311
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 418533
ClinVar RCV Id: RCV000480360 RCV000504759 RCV001074179 RCV003463976
dbSNP Id: rs137954284
ExAC: 1:216424331 C / T
gnomAD v2: 1-216424331-C-T
gnomAD v3: 1-216250989-C-T
gnomAD v4: 1-216250989-C-T
MyVariant Identifiers: chr1:g.216424331C>T (hg19) chr1:g.216250989C>T (hg38)
PubMed: PMID:20591486 PMID:28041643
ERepo: CA1396311/MONDO:0019501/005
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216250989C>T , CM000663.2:g.216250989C>T GRCh38
NC_000001.10:g.216424331C>T , CM000663.1:g.216424331C>T GRCh37
NC_000001.9:g.214490954C>T NCBI36
NG_009497.1:g.177408G>A
NG_009497.2:g.177460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2081G>A MANE Select ENSP00000305941.3:p.Cys694Tyr
ENST00000674083.1:c.2081G>A ENSP00000501296.1:p.Cys694Tyr
ENST00000307340.7:c.2081G>A ENSP00000305941.3:p.Cys694Tyr
ENST00000366942.3:c.2081G>A ENSP00000355909.3:p.Cys694Tyr
NM_007123.5:c.2081G>A NP_009054.5:p.Cys694Tyr
NM_206933.2:c.2081G>A NP_996816.2:p.Cys694Tyr
NM_206933.3:c.2081G>A NP_996816.2:p.Cys694Tyr
NM_007123.6:c.2081G>A NP_009054.6:p.Cys694Tyr
NM_206933.4:c.2081G>A MANE Select NP_996816.3:p.Cys694Tyr
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