Canonical Allele Identifier: CA1220426421
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1662244035

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799266del , CM000663.2:g.215799266del GRCh38
NC_000001.10:g.215972608del , CM000663.1:g.215972608del GRCh37
NC_000001.9:g.214039231del NCBI36
NG_009497.1:g.629131del
NG_009497.2:g.629183del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9740-141del MANE Select ENSP00000305941.3:n.9740-141del
ENST00000674083.1:c.9740-141del ENSP00000501296.1:n.9740-141del
ENST00000307340.7:c.9740-141del ENSP00000305941.3:n.9740-141del
NM_206933.2:c.9740-141del NP_996816.2:n.9740-141del
NM_206933.3:c.9740-141del NP_996816.2:n.9740-141del
NM_206933.4:c.9740-141del MANE Select NP_996816.3:n.9740-141del