Canonical Allele Identifier: CA10576384

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 228414
• ClinVar RCV Id: RCV000213465 ; RCV000255459 ; RCV001002706 ; RCV001003271 ; RCV001375185 ; RCV001257907 ; RCV001074367 ; RCV001542730 ; RCV001723796 ; RCV002500705
• dbSNP Id: rs876657731
• gnomAD v2: 1-216246438-C-T
• gnomAD v4: 1-216073096-C-T
• MyVariant Identifiers: chr1:g.216246438C>T (hg19) ; chr1:g.216073096C>T (hg38)
• PubMed: PMID:18273898 ; PMID:18641288 ; PMID:19683999 ; PMID:23591405 ; PMID:24944099 ; PMID:25097241 ; PMID:25558175 ; PMID:25575603 ; PMID:25649381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216073096C>T , CM000663.2:g.216073096C>T	GRCh38
NC_000001.10:g.216246438C>T , CM000663.1:g.216246438C>T	GRCh37
NC_000001.9:g.214313061C>T	NCBI36
NG_009497.1:g.355301G>A
NG_009497.2:g.355353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5776+1G>A (USH2A) MANE Select	ENSP00000305941.3:n.5776+1G>A
ENST00000674083.1:c.5776+1G>A (USH2A)	ENSP00000501296.1:n.5776+1G>A
ENST00000307340.7:c.5776+1G>A (USH2A)	ENSP00000305941.3:n.5776+1G>A
NM_206933.2:c.5776+1G>A (USH2A)	NP_996816.2:n.5776+1G>A
NR_125992.1:n.136+496C>T (USH2A-AS2)
NR_125993.1:n.136+496C>T (USH2A-AS2)
NM_206933.3:c.5776+1G>A (USH2A)	NP_996816.2:n.5776+1G>A
NM_206933.4:c.5776+1G>A (USH2A) MANE Select	NP_996816.3:n.5776+1G>A