Canonical Allele Identifier: CA344832484

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438028
• ClinVar RCV Id: RCV000504749 ; RCV001376219 ; RCV002527328
• dbSNP Id: rs1188281491
• gnomAD v4: 1-215879038-G-C
• COSMIC: COSM3376059 ; COSM3376060
• MyVariant Identifiers: chr1:g.216052380G>C (hg19) ; chr1:g.215879038G>C (hg38)
• PubMed: PMID:25133613 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215879038G>C , CM000663.2:g.215879038G>C	GRCh38
NC_000001.10:g.216052380G>C , CM000663.1:g.216052380G>C	GRCh37
NC_000001.9:g.214119003G>C	NCBI36
NG_009497.1:g.549359C>G
NG_009497.2:g.549411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8284C>G MANE Select	ENSP00000305941.3:p.Pro2762Ala
ENST00000674083.1:c.8284C>G	ENSP00000501296.1:p.Pro2762Ala
ENST00000307340.7:c.8284C>G	ENSP00000305941.3:p.Pro2762Ala
NM_206933.2:c.8284C>G	NP_996816.2:p.Pro2762Ala
NM_206933.3:c.8284C>G	NP_996816.2:p.Pro2762Ala
NM_206933.4:c.8284C>G MANE Select	NP_996816.3:p.Pro2762Ala