Canonical Allele Identifier: CA262097
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48476
dbSNP Id: rs397518003

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