Canonical Allele Identifier: CA37412317

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438014
• ClinVar RCV Id: RCV000504721 ; RCV000598833 ; RCV000670712 ; RCV001074297 ; RCV001829437
• dbSNP Id: rs1003869920
• gnomAD v3: 1-215674335-G-A
• gnomAD v4: 1-215674335-G-A
• COSMIC: COSM903843 ; COSM3483386
• MyVariant Identifiers: chr1:g.215847677G>A (hg19) ; chr1:g.215674335G>A (hg38)
• PubMed: PMID:21593743 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674335G>A , CM000663.2:g.215674335G>A	GRCh38
NC_000001.10:g.215847677G>A , CM000663.1:g.215847677G>A	GRCh37
NC_000001.9:g.213914300G>A	NCBI36
NG_009497.1:g.754062C>T
NG_009497.2:g.754114C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.13576C>T MANE Select	ENSP00000305941.3:p.Arg4526Ter
ENST00000674083.1:c.13576C>T	ENSP00000501296.1:p.Arg4526Ter
ENST00000307340.7:c.13576C>T	ENSP00000305941.3:p.Arg4526Ter
NM_206933.2:c.13576C>T	NP_996816.2:p.Arg4526Ter
NM_206933.3:c.13576C>T	NP_996816.2:p.Arg4526Ter
NM_206933.4:c.13576C>T MANE Select	NP_996816.3:p.Arg4526Ter