Canonical Allele Identifier: CA16044155

Gene: USH2A

Linked Data

• ClinVar Variation Id: 226441
• ClinVar RCV Id: RCV000216234 ; RCV000675100 ; RCV001004786 ; RCV001056911 ; RCV001376499 ; RCV001723791 ; RCV001833176
• dbSNP Id: rs1057519382
• gnomAD v3: 1-215798944-A-C
• gnomAD v4: 1-215798944-A-C
• MyVariant Identifiers: chr1:g.215972286A>C (hg19) ; chr1:g.215798944A>C (hg38)
• ERepo: CA16044155/MONDO:0019501/005
• PubMed: PMID:20301442 ; PMID:21569298

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215798944A>C , CM000663.2:g.215798944A>C	GRCh38
NC_000001.10:g.215972286A>C , CM000663.1:g.215972286A>C	GRCh37
NC_000001.9:g.214038909A>C	NCBI36
NG_009497.1:g.629453T>G
NG_009497.2:g.629505T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.9921T>G MANE Select	ENSP00000305941.3:p.Cys3307Trp
ENST00000674083.1:c.9921T>G	ENSP00000501296.1:p.Cys3307Trp
ENST00000307340.7:c.9921T>G	ENSP00000305941.3:p.Cys3307Trp
NM_206933.2:c.9921T>G	NP_996816.2:p.Cys3307Trp
NM_206933.3:c.9921T>G	NP_996816.2:p.Cys3307Trp
NM_206933.4:c.9921T>G MANE Select	NP_996816.3:p.Cys3307Trp