Canonical Allele Identifier: CA143395

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48461
• ClinVar RCV Id: RCV001247642 ; RCV001810412 ; RCV002483032
• dbSNP Id: rs111033402
• ExAC: 1:215802311 A / G
• gnomAD v2: 1-215802311-A-G
• gnomAD v3: 1-215628969-A-G
• gnomAD v4: 1-215628969-A-G
• MyVariant Identifiers: chr1:g.215802311A>G (hg19) ; chr1:g.215628969A>G (hg38)
• PubMed: PMID:23591405

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215628969A>G , CM000663.2:g.215628969A>G	GRCh38
NC_000001.10:g.215802311A>G , CM000663.1:g.215802311A>G	GRCh37
NC_000001.9:g.213868934A>G	NCBI36
NG_009497.1:g.799428T>C
NG_009497.2:g.799480T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.15364T>C MANE Select	ENSP00000305941.3:p.Cys5122Arg
ENST00000674083.1:c.15436T>C	ENSP00000501296.1:p.Cys5146Arg
ENST00000307340.7:c.15364T>C	ENSP00000305941.3:p.Cys5122Arg
NM_206933.2:c.15364T>C	NP_996816.2:p.Cys5122Arg
NM_206933.3:c.15364T>C	NP_996816.2:p.Cys5122Arg
NM_206933.4:c.15364T>C MANE Select	NP_996816.3:p.Cys5122Arg