Canonical Allele Identifier: CA262131
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48626
ClinVar RCV Id: RCV000041952 RCV000624783 RCV001003263 RCV001055909 RCV001074810 RCV001723630 RCV001831709 RCV002504928 RCV003387741 RCV003492342
dbSNP Id: rs397518048
ExAC: 1:215990485 C / A
gnomAD v2: 1-215990485-C-A
gnomAD v3: 1-215817143-C-A
gnomAD v4: 1-215817143-C-A
MyVariant Identifiers: chr1:g.215990485C>A (hg19) chr1:g.215817143C>A (hg38)
PubMed: PMID:10729113 PMID:10775529 PMID:11311042 PMID:12525556 PMID:15325563 PMID:17296898 PMID:17405132 PMID:18641288 PMID:18665195 PMID:20145675 PMID:20507924 PMID:21174530 PMID:21234346 PMID:22495311 PMID:23352160 PMID:24160897 PMID:24944099 PMID:25649381
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817143C>A , CM000663.2:g.215817143C>A GRCh38
NC_000001.10:g.215990485C>A , CM000663.1:g.215990485C>A GRCh37
NC_000001.9:g.214057108C>A NCBI36
NG_009497.1:g.611254G>T
NG_009497.2:g.611306G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9424G>T MANE Select ENSP00000305941.3:p.Gly3142Ter
ENST00000674083.1:c.9424G>T ENSP00000501296.1:p.Gly3142Ter
ENST00000307340.7:c.9424G>T ENSP00000305941.3:p.Gly3142Ter
NM_206933.2:c.9424G>T NP_996816.2:p.Gly3142Ter
NM_206933.3:c.9424G>T NP_996816.2:p.Gly3142Ter
NM_206933.4:c.9424G>T MANE Select NP_996816.3:p.Gly3142Ter
Search 100 bp 5'
Search 100 bp 3'