Canonical Allele Identifier: CA1396646

Gene: USH2A

Linked Data

• ClinVar Variation Id: 284411
• ClinVar RCV Id: RCV000276147 ; RCV000666542 ; RCV000754554 ; RCV001074790 ; RCV001828199 ; RCV002229842
• dbSNP Id: rs371777049
• ExAC: 1:216498882 C / T
• gnomAD v2: 1-216498882-C-T
• gnomAD v3: 1-216325540-C-T
• gnomAD v4: 1-216325540-C-T
• MyVariant Identifiers: chr1:g.216498882C>T (hg19) ; chr1:g.216325540C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325540C>T , CM000663.2:g.216325540C>T	GRCh38
NC_000001.10:g.216498882C>T , CM000663.1:g.216498882C>T	GRCh37
NC_000001.9:g.214565505C>T	NCBI36
NG_009497.1:g.102857G>A
NG_009497.2:g.102909G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.908G>A MANE Select	ENSP00000305941.3:p.Arg303His
ENST00000674083.1:c.908G>A	ENSP00000501296.1:p.Arg303His
ENST00000307340.7:c.908G>A	ENSP00000305941.3:p.Arg303His
ENST00000366942.3:c.908G>A	ENSP00000355909.3:p.Arg303His
NM_007123.5:c.908G>A	NP_009054.5:p.Arg303His
NM_206933.2:c.908G>A	NP_996816.2:p.Arg303His
NM_206933.3:c.908G>A	NP_996816.2:p.Arg303His
NM_007123.6:c.908G>A	NP_009054.6:p.Arg303His
NM_206933.4:c.908G>A MANE Select	NP_996816.3:p.Arg303His