Canonical Allele Identifier: CA2747724430
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867298_215867299insAGTA , CM000663.2:g.215867298_215867299insAGTA GRCh38
NC_000001.10:g.216040640_216040641insAGTA , CM000663.1:g.216040640_216040641insAGTA GRCh37
NC_000001.9:g.214107263_214107264insAGTA NCBI36
NG_009497.1:g.561098_561099insTACT
NG_009497.2:g.561150_561151insTACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-129_8682-128insTACT MANE Select ENSP00000305941.3:n.8682-129_8682-128insTACT
ENST00000674083.1:c.8682-129_8682-128insTACT ENSP00000501296.1:n.8682-129_8682-128insTACT
ENST00000307340.7:c.8682-129_8682-128insTACT ENSP00000305941.3:n.8682-129_8682-128insTACT
NM_206933.2:c.8682-129_8682-128insTACT NP_996816.2:n.8682-129_8682-128insTACT
NM_206933.3:c.8682-129_8682-128insTACT NP_996816.2:n.8682-129_8682-128insTACT
NM_206933.4:c.8682-129_8682-128insTACT MANE Select NP_996816.3:n.8682-129_8682-128insTACT
Search 100 bp 5'
Search 100 bp 3'