Canonical Allele Identifier: CA275315
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 197932
ClinVar RCV Id: RCV000179099 RCV000190637 RCV000482080 RCV000505000 RCV000515419 RCV001073681 RCV001174974 RCV003407663
dbSNP Id: rs148660051
ExAC: 1:215963510 C / T
gnomAD v2: 1-215963510-C-T
gnomAD v3: 1-215790168-C-T
gnomAD v4: 1-215790168-C-T
MyVariant Identifiers: chr1:g.215963510C>T (hg19) chr1:g.215790168C>T (hg38)
PubMed: PMID:20507924 PMID:21151602 PMID:22004887 PMID:22135276 PMID:22334370 PMID:23891399 PMID:25097241 PMID:25472526 PMID:25649381 PMID:25999674 PMID:26667666 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215790168C>T , CM000663.2:g.215790168C>T GRCh38
NC_000001.10:g.215963510C>T , CM000663.1:g.215963510C>T GRCh37
NC_000001.9:g.214030133C>T NCBI36
NG_009497.1:g.638229G>A
NG_009497.2:g.638281G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10073G>A MANE Select ENSP00000305941.3:p.Cys3358Tyr
ENST00000674083.1:c.10073G>A ENSP00000501296.1:p.Cys3358Tyr
ENST00000307340.7:c.10073G>A ENSP00000305941.3:p.Cys3358Tyr
NM_206933.2:c.10073G>A NP_996816.2:p.Cys3358Tyr
NM_206933.3:c.10073G>A NP_996816.2:p.Cys3358Tyr
NM_206933.4:c.10073G>A MANE Select NP_996816.3:p.Cys3358Tyr
Search 100 bp 5'
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