Canonical Allele Identifier: CA2747724435
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867301_215867302insAGA , CM000663.2:g.215867301_215867302insAGA GRCh38
NC_000001.10:g.216040643_216040644insAGA , CM000663.1:g.216040643_216040644insAGA GRCh37
NC_000001.9:g.214107266_214107267insAGA NCBI36
NG_009497.1:g.561095_561096insTCT
NG_009497.2:g.561147_561148insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-132_8682-131insTCT MANE Select ENSP00000305941.3:n.8682-132_8682-131insTCT
ENST00000674083.1:c.8682-132_8682-131insTCT ENSP00000501296.1:n.8682-132_8682-131insTCT
ENST00000307340.7:c.8682-132_8682-131insTCT ENSP00000305941.3:n.8682-132_8682-131insTCT
NM_206933.2:c.8682-132_8682-131insTCT NP_996816.2:n.8682-132_8682-131insTCT
NM_206933.3:c.8682-132_8682-131insTCT NP_996816.2:n.8682-132_8682-131insTCT
NM_206933.4:c.8682-132_8682-131insTCT MANE Select NP_996816.3:n.8682-132_8682-131insTCT
Search 100 bp 5'
Search 100 bp 3'