Canonical Allele Identifier: CA262058

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48352
• ClinVar RCV Id: RCV000041673 ; RCV000504880 ; RCV000665210 ; RCV000824783 ; RCV001074824 ; RCV001056065 ; RCV002287354 ; RCV001376413
• dbSNP Id: rs111033264
• ExAC: 1:215956104 A / G
• gnomAD v2: 1-215956104-A-G
• gnomAD v3: 1-215782762-A-G
• gnomAD v4: 1-215782762-A-G
• MyVariant Identifiers: chr1:g.215956104A>G (hg19) ; chr1:g.215782762A>G (hg38)
• PubMed: PMID:18273898 ; PMID:20507924 ; PMID:22135276 ; PMID:23591405 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782762A>G , CM000663.2:g.215782762A>G	GRCh38
NC_000001.10:g.215956104A>G , CM000663.1:g.215956104A>G	GRCh37
NC_000001.9:g.214022727A>G	NCBI36
NG_009497.1:g.645635T>C
NG_009497.2:g.645687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10561T>C MANE Select	ENSP00000305941.3:p.Trp3521Arg
ENST00000674083.1:c.10561T>C	ENSP00000501296.1:p.Trp3521Arg
ENST00000307340.7:c.10561T>C	ENSP00000305941.3:p.Trp3521Arg
NM_206933.2:c.10561T>C	NP_996816.2:p.Trp3521Arg
NM_206933.3:c.10561T>C	NP_996816.2:p.Trp3521Arg
NM_206933.4:c.10561T>C MANE Select	NP_996816.3:p.Trp3521Arg