Canonical Allele Identifier: CA270152
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 143179
ClinVar RCV Id: RCV000132710 RCV000576637 RCV000595137 RCV000986542 RCV001003277 RCV001074347 RCV002469023
dbSNP Id: rs201527662
ExAC: 1:216419934 A / C
gnomAD v2: 1-216419934-A-C
gnomAD v3: 1-216246592-A-C
gnomAD v4: 1-216246592-A-C
MyVariant Identifiers: chr1:g.216419934A>C (hg19) chr1:g.216246592A>C (hg38)
PubMed: PMID:21686329 PMID:24938718 PMID:25324289 PMID:26310143 PMID:26338283 PMID:27460420 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246592A>C , CM000663.2:g.216246592A>C GRCh38
NC_000001.10:g.216419934A>C , CM000663.1:g.216419934A>C GRCh37
NC_000001.9:g.214486557A>C NCBI36
NG_009497.1:g.181805T>G
NG_009497.2:g.181857T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.2802T>G MANE Select ENSP00000305941.3:p.Cys934Trp
ENST00000674083.1:c.2802T>G ENSP00000501296.1:p.Cys934Trp
ENST00000307340.7:c.2802T>G ENSP00000305941.3:p.Cys934Trp
ENST00000366942.3:c.2802T>G ENSP00000355909.3:p.Cys934Trp
NM_007123.5:c.2802T>G NP_009054.5:p.Cys934Trp
NM_206933.2:c.2802T>G NP_996816.2:p.Cys934Trp
NM_206933.3:c.2802T>G NP_996816.2:p.Cys934Trp
NM_007123.6:c.2802T>G NP_009054.6:p.Cys934Trp
NM_206933.4:c.2802T>G MANE Select NP_996816.3:p.Cys934Trp
Search 100 bp 5'
Search 100 bp 3'