Canonical Allele Identifier: CA37460459

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438024
• ClinVar RCV Id: RCV000505173 ; RCV001062758 ; RCV000674025 ; RCV003446099 ; RCV003446100
• dbSNP Id: rs1035024403
• gnomAD v3: 1-216048648-C-T
• gnomAD v4: 1-216048648-C-T
• MyVariant Identifiers: chr1:g.216221990C>T (hg19) ; chr1:g.216048648C>T (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216048648C>T , CM000663.2:g.216048648C>T	GRCh38
NC_000001.10:g.216221990C>T , CM000663.1:g.216221990C>T	GRCh37
NC_000001.9:g.214288613C>T	NCBI36
NG_009497.1:g.379749G>A
NG_009497.2:g.379801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6050-1G>A MANE Select	ENSP00000305941.3:n.6050-1G>A
ENST00000674083.1:c.6050-1G>A	ENSP00000501296.1:n.6050-1G>A
ENST00000307340.7:c.6050-1G>A	ENSP00000305941.3:n.6050-1G>A
NM_206933.2:c.6050-1G>A	NP_996816.2:n.6050-1G>A
NM_206933.3:c.6050-1G>A	NP_996816.2:n.6050-1G>A
NM_206933.4:c.6050-1G>A MANE Select	NP_996816.3:n.6050-1G>A