Canonical Allele Identifier: CA252231

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2355
• ClinVar RCV Id: RCV000002449 ; RCV000303941 ; RCV000824798 ; RCV001004780 ; RCV001074393 ; RCV003460406
• dbSNP Id: rs121912599
• ExAC: 1:216498834 C / T
• gnomAD v2: 1-216498834-C-T
• gnomAD v4: 1-216325492-C-T
• MyVariant Identifiers: chr1:g.216498834C>T (hg19) ; chr1:g.216325492C>T (hg38)
• ERepo: CA252231/MONDO:0019501/005
• PubMed: PMID:10729113 ; PMID:26969326

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325492C>T , CM000663.2:g.216325492C>T	GRCh38
NC_000001.10:g.216498834C>T , CM000663.1:g.216498834C>T	GRCh37
NC_000001.9:g.214565457C>T	NCBI36
NG_009497.1:g.102905G>A
NG_009497.2:g.102957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.956G>A MANE Select	ENSP00000305941.3:p.Cys319Tyr
ENST00000674083.1:c.956G>A	ENSP00000501296.1:p.Cys319Tyr
ENST00000307340.7:c.956G>A	ENSP00000305941.3:p.Cys319Tyr
ENST00000366942.3:c.956G>A	ENSP00000355909.3:p.Cys319Tyr
NM_007123.5:c.956G>A	NP_009054.5:p.Cys319Tyr
NM_206933.2:c.956G>A	NP_996816.2:p.Cys319Tyr
NM_206933.3:c.956G>A	NP_996816.2:p.Cys319Tyr
NM_007123.6:c.956G>A	NP_009054.6:p.Cys319Tyr
NM_206933.4:c.956G>A MANE Select	NP_996816.3:p.Cys319Tyr