Canonical Allele Identifier: CA143213

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48342
• ClinVar RCV Id: RCV000041663 ; RCV000670778 ; RCV001074760 ; RCV001362594 ; RCV003466891
• dbSNP Id: rs397517963
• gnomAD v3: 1-216325448-G-C
• gnomAD v4: 1-216325448-G-C
• MyVariant Identifiers: chr1:g.216498790G>C (hg19) ; chr1:g.216325448G>C (hg38)
• PubMed: PMID:10738000 ; PMID:15025721 ; PMID:17405132 ; PMID:27344577

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325448G>C , CM000663.2:g.216325448G>C	GRCh38
NC_000001.10:g.216498790G>C , CM000663.1:g.216498790G>C	GRCh37
NC_000001.9:g.214565413G>C	NCBI36
NG_009497.1:g.102949C>G
NG_009497.2:g.103001C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1000C>G MANE Select	ENSP00000305941.3:p.Arg334Gly
ENST00000674083.1:c.1000C>G	ENSP00000501296.1:p.Arg334Gly
ENST00000307340.7:c.1000C>G	ENSP00000305941.3:p.Arg334Gly
ENST00000366942.3:c.1000C>G	ENSP00000355909.3:p.Arg334Gly
NM_007123.5:c.1000C>G	NP_009054.5:p.Arg334Gly
NM_206933.2:c.1000C>G	NP_996816.2:p.Arg334Gly
NM_206933.3:c.1000C>G	NP_996816.2:p.Arg334Gly
NM_007123.6:c.1000C>G	NP_009054.6:p.Arg334Gly
NM_206933.4:c.1000C>G MANE Select	NP_996816.3:p.Arg334Gly