Canonical Allele Identifier: CA262091

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48433
• ClinVar RCV Id: RCV000041756 ; RCV000665736 ; RCV001057445 ; RCV001198544 ; RCV003450788 ; RCV003887895
• dbSNP Id: rs397517990
• gnomAD v4: 1-215650648-C-T
• COSMIC: COSM5636229 ; COSM5636230
• MyVariant Identifiers: chr1:g.215823990C>T (hg19) ; chr1:g.215650648C>T (hg38)
• PubMed: PMID:20507924

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215650648C>T , CM000663.2:g.215650648C>T	GRCh38
NC_000001.10:g.215823990C>T , CM000663.1:g.215823990C>T	GRCh37
NC_000001.9:g.213890613C>T	NCBI36
NG_009497.1:g.777749G>A
NG_009497.2:g.777801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14287G>A MANE Select	ENSP00000305941.3:p.Gly4763Arg
ENST00000674083.1:c.14287G>A	ENSP00000501296.1:p.Gly4763Arg
ENST00000307340.7:c.14287G>A	ENSP00000305941.3:p.Gly4763Arg
NM_206933.2:c.14287G>A	NP_996816.2:p.Gly4763Arg
NM_206933.3:c.14287G>A	NP_996816.2:p.Gly4763Arg
NM_206933.4:c.14287G>A MANE Select	NP_996816.3:p.Gly4763Arg