Canonical Allele Identifier: CA262122
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48604
dbSNP Id: rs397518039

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215877882T>C , CM000663.2:g.215877882T>C GRCh38
NC_000001.10:g.216051224T>C , CM000663.1:g.216051224T>C GRCh37
NC_000001.9:g.214117847T>C NCBI36
NG_009497.1:g.550515A>G
NG_009497.2:g.550567A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8559-2A>G MANE Select ENSP00000305941.3:n.8559-2A>G
ENST00000674083.1:c.8559-2A>G ENSP00000501296.1:n.8559-2A>G
ENST00000307340.7:c.8559-2A>G ENSP00000305941.3:n.8559-2A>G
NM_206933.2:c.8559-2A>G NP_996816.2:n.8559-2A>G
NM_206933.3:c.8559-2A>G NP_996816.2:n.8559-2A>G
NM_206933.4:c.8559-2A>G MANE Select NP_996816.3:n.8559-2A>G