Canonical Allele Identifier: CA275270

Gene: USH2A

Linked Data

• ClinVar Variation Id: 197447
• ClinVar RCV Id: RCV000178475 ; RCV000504696 ; RCV000669197 ; RCV001075871 ; RCV001542728 ; RCV003445607 ; RCV004537466
• dbSNP Id: rs201657446
• gnomAD v2: 1-216062399-G-C
• gnomAD v3: 1-215889057-G-C
• gnomAD v4: 1-215889057-G-C
• MyVariant Identifiers: chr1:g.216062399G>C (hg19) ; chr1:g.215889057G>C (hg38)
• PubMed: PMID:17405132 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215889057G>C , CM000663.2:g.215889057G>C	GRCh38
NC_000001.10:g.216062399G>C , CM000663.1:g.216062399G>C	GRCh37
NC_000001.9:g.214129022G>C	NCBI36
NG_009497.1:g.539340C>G
NG_009497.2:g.539392C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7595-3C>G MANE Select	ENSP00000305941.3:n.7595-3C>G
ENST00000674083.1:c.7595-3C>G	ENSP00000501296.1:n.7595-3C>G
ENST00000307340.7:c.7595-3C>G	ENSP00000305941.3:n.7595-3C>G
NM_206933.2:c.7595-3C>G	NP_996816.2:n.7595-3C>G
NM_206933.3:c.7595-3C>G	NP_996816.2:n.7595-3C>G
NM_206933.4:c.7595-3C>G MANE Select	NP_996816.3:n.7595-3C>G