Canonical Allele Identifier: CA10576390

Gene: USH2A

Linked Data

• ClinVar Variation Id: 228413
• ClinVar RCV Id: RCV000220465 ; RCV000578546 ; RCV000667749 ; RCV001097549 ; RCV001097550
• dbSNP Id: rs876657730
• gnomAD v2: 1-216592022-C-G
• gnomAD v4: 1-216418680-C-G
• MyVariant Identifiers: chr1:g.216592022C>G (hg19) ; chr1:g.216592022_216592025delinsGTTA (hg19) ; chr1:g.216418680C>G (hg38) ; chr1:g.216418680_216418683delinsGTTA (hg38)
• PubMed: PMID:16963483 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418680C>G , CM000663.2:g.216418680C>G	GRCh38
NC_000001.10:g.216592022C>G , CM000663.1:g.216592022C>G	GRCh37
NC_000001.9:g.214658645C>G	NCBI36
NG_009497.1:g.9717G>C
NG_009497.2:g.9769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.486-1G>C MANE Select	ENSP00000305941.3:n.486-1G>C
ENST00000674083.1:c.486-1G>C	ENSP00000501296.1:n.486-1G>C
ENST00000307340.7:c.486-1G>C	ENSP00000305941.3:n.486-1G>C
ENST00000366942.3:c.486-1G>C	ENSP00000355909.3:n.486-1G>C
NM_007123.5:c.486-1G>C	NP_009054.5:n.486-1G>C
NM_206933.2:c.486-1G>C	NP_996816.2:n.486-1G>C
NM_206933.3:c.486-1G>C	NP_996816.2:n.486-1G>C
NM_007123.6:c.486-1G>C	NP_009054.6:n.486-1G>C
NM_206933.4:c.486-1G>C MANE Select	NP_996816.3:n.486-1G>C