Canonical Allele Identifier: CA262097

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48476
• ClinVar RCV Id: RCV000041799 ; RCV000270130 ; RCV000665036 ; RCV001069761 ; RCV000984014 ; RCV001544537 ; RCV001271238 ; RCV002470736
• dbSNP Id: rs397518003
• ExAC: 1:216462754 T / C
• gnomAD v2: 1-216462754-T-C
• gnomAD v3: 1-216289412-T-C
• gnomAD v4: 1-216289412-T-C
• MyVariant Identifiers: chr1:g.216462754T>C (hg19) ; chr1:g.216289412T>C (hg38)
• PubMed: PMID:12525556 ; PMID:15823922 ; PMID:18641288 ; PMID:19683999 ; PMID:20497194 ; PMID:21487335 ; PMID:21569298 ; PMID:21738395 ; PMID:22004887 ; PMID:22135276 ; PMID:24875298 ; PMID:24944099

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216289412T>C , CM000663.2:g.216289412T>C	GRCh38
NC_000001.10:g.216462754T>C , CM000663.1:g.216462754T>C	GRCh37
NC_000001.9:g.214529377T>C	NCBI36
NG_009497.1:g.138985A>G
NG_009497.2:g.139037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1841-2A>G MANE Select	ENSP00000305941.3:n.1841-2A>G
ENST00000674083.1:c.1841-2A>G	ENSP00000501296.1:n.1841-2A>G
ENST00000307340.7:c.1841-2A>G	ENSP00000305941.3:n.1841-2A>G
ENST00000366942.3:c.1841-2A>G	ENSP00000355909.3:n.1841-2A>G
NM_007123.5:c.1841-2A>G	NP_009054.5:n.1841-2A>G
NM_206933.2:c.1841-2A>G	NP_996816.2:n.1841-2A>G
NM_206933.3:c.1841-2A>G	NP_996816.2:n.1841-2A>G
NM_007123.6:c.1841-2A>G	NP_009054.6:n.1841-2A>G
NM_206933.4:c.1841-2A>G MANE Select	NP_996816.3:n.1841-2A>G