Canonical Allele Identifier: CA1220416988
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1661669113

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782394_215782395del , CM000663.2:g.215782394_215782395del GRCh38
NC_000001.10:g.215955736_215955737del , CM000663.1:g.215955736_215955737del GRCh37
NC_000001.9:g.214022359_214022360del NCBI36
NG_009497.1:g.646004_646005del
NG_009497.2:g.646056_646057del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-197_10586-196del MANE Select ENSP00000305941.3:n.10586-197_10586-196del
ENST00000674083.1:c.10586-197_10586-196del ENSP00000501296.1:n.10586-197_10586-196del
ENST00000307340.7:c.10586-197_10586-196del ENSP00000305941.3:n.10586-197_10586-196del
NM_206933.2:c.10586-197_10586-196del NP_996816.2:n.10586-197_10586-196del
NM_206933.3:c.10586-197_10586-196del NP_996816.2:n.10586-197_10586-196del
NM_206933.4:c.10586-197_10586-196del MANE Select NP_996816.3:n.10586-197_10586-196del